Functional variants and causal genes for AD GWAS



SNP CHR POS A1 A2 Gene Location IGAP_Beta IGAP_Pvalue Kunkle_Beta Kunkle_Pvalue Jansen_Beta Jansen_Pvalue Histone_mod ATAC diff_TF eQTL Functional genes
rs4394011945414451TCAPOE,APOC1intergenic-0.3613.55E-79-0.3827.61E-128-0.0617.70E-167TOMM40,APOC1
rs4404461945409167CGAPOEexonic-0.3232.30E-67-0.3572.28E-112-0.0581.33E-143TOMM40,APOC1
rs4055091945408836GTAPOEupstream-0.3034.35E-73-0.3333.11E-114-0.0551.37E-145TOMM40
rs104011761945253491TCBCL3intronic-0.2141.51E-11-0.1602.46E-10-0.0373.60E-30-
rs29651691945251156CABCL3upstream-0.2375.19E-36-0.2062.75E-37-0.0359.24E-58ZNF112
rs48037481945247048TCCEACAM16,BCL3intergenic-0.2378.73E-37-0.2011.68E-36-0.0359.78E-56PVR,CEACAM19
rs169793721945195313GTCEACAM19,CEACAM16intergenic-0.1568.73E-4-0.1536.14E-5-0.0324.10E-9CEACAM19
rs1474245431945192912TACEACAM19,CEACAM16intergenic-0.0880.050-0.0730.087-0.0261.33E-6PVR
rs772413091945349177CGPVRL2upstream-0.2293.69E-6-0.1671.59E-8-0.0244.33E-10-
rs60643922054984768TGCSTF1,CASS4intergenic-0.1281.11E-5-0.1195.17E-6-0.0235.19E-9CASS4,CSTF1
rs174621362054987216CGCASS4UTR5-0.1342.24E-6-0.1232.47E-6-0.0235.29E-9CASS4,CSTF1
rs3764643191040382AGABCA7intronic-0.1240.008-0.0850.032-0.0225.79E-5TMEM259,ABCA7
rs71834041559157634TCFAM63B,SLTMintergenic-0.0560.081-0.0360.229-0.0226.00E-7FAM63B,FAM81A
rs116031361185874322CAPICALM,EEDintergenic-0.0693.57E-5-0.0581.11E-4-0.0223.67E-5-
rs18710471945351746GAPVRL2intronic-0.1412.20E-18-0.1452.50E-22-0.0222.35E-22PVRL2
rs18710461945351937CTPVRL2intronic-0.1424.33E-18-0.1857.74E-31-0.0214.00E-22PVRL2
rs104264231945348253TCBCAM,PVRL2intergenic-0.1423.03E-17-0.1441.39E-21-0.0218.76E-22PVRL2
rs15315161945353261GCPVRL2intronic-0.1461.01E-18-0.1522.79E-23-0.0216.52E-22PVRL2
rs3752228191041164TCABCA7intronic-0.1000.035-0.0840.035-0.0211.27E-4TMEM259,DAZAP1
rs1532278827466315TCCLUintronic-0.1431.67E-16-0.1263.27E-16-0.0202.07E-19CLU
rs423637975258938GTWIPI2intronic-0.0390.246-0.0260.390-0.0208.44E-6RBAK-RBAKDN
rs1532277827466181TCCLUintronic-0.1393.06E-16-0.1263.79E-16-0.0202.70E-19CLU
rs1532276827466157TCCLUintronic-0.1415.72E-17-0.1271.73E-16-0.0202.29E-19CLU,SCARA3
rs29725691945351891AGPVRL2intronic-0.0989.75E-5-0.1132.83E-8-0.0201.71E-12PVR
rs110757771670714287AGMTSS1Lintronic-0.0646.67E-5-0.0612.66E-5-0.0201.93E-4VAC14
rs453092675258622TCWIPI2intronic-0.0260.429-0.0210.483-0.0201.52E-5WIPI2,RBAK-RBAKDN
rs5987261185828548GAPICALM,EEDintergenic-0.1202.87E-13-0.1146.17E-14-0.0198.78E-17-
rs104264011945147719GTPVRintronic-0.1132.79E-9-0.1115.67E-11-0.0193.66E-14PVR
rs765169952127864921CGBIN1upstreamNANA-0.1214.83E-10-0.0190.238BIN1
rs24585001185779310AGPICALMintronic-0.0969.03E-7-0.0871.21E-6-0.0188.37E-12PICALM
rs25096081185779297TGPICALMintronic-0.0969.06E-7-0.0881.19E-6-0.0189.15E-12PICALM
rs30163271185780448TCPICALMintronic-0.0967.46E-7-0.0807.26E-6-0.0181.12E-11PICALM
rs2405442799971313TCPILRAexonic-0.0734.23E-5-0.0654.37E-5-0.0182.66E-15TRIM4,STAG3,POP7,PILRB,AP4M1,PILRA
rs79263541159962189AGMS4A6A,MS4A4Aintergenic-0.0994.22E-10-0.1136.96E-15-0.0174.93E-14-
rs108970111159961427AGMS4A6A,MS4A4Aintergenic-0.0994.21E-10-0.1137.25E-15-0.0176.00E-14-
rs112301801159961486TGMS4A6A,MS4A4Aintergenic-0.0995.07E-10-0.1138.20E-15-0.0176.47E-14-
rs6363171160019150CTMS4A6A,MS4A4Aintergenic-0.1011.41E-10-0.1145.91E-15-0.0162.13E-13-
rs51581945447178TCAPOC4-APOC2ncRNA_intronic-0.0190.464-0.0240.286-0.0161.12E-6APOE
rs25096091185779162CGPICALMintronicNANA-0.0861.75E-6-0.0162.63E-8PICALM
rs11402391630021402TCDOC2Aexonic-0.0420.008-0.0400.006-0.0150.004TAOK2,YPEL3,MAPK3,PPP4C,ASPHD1,TMEM219,INO80E
rs102009672127841769CTBIN1intronic-0.0873.05E-6-0.0974.31E-9-0.0157.61E-10BIN1
rs858512799824453AGGATSintronic-0.0599.38E-4-0.0470.004-0.0154.82E-10TRIM4,GATS,STAG3,MCM7,ZSCAN21,CNPY4,PILRB,AP4M1,TAF6,PILRA
rs115400841945147340TGPVRUTR5-0.0961.90E-6-0.0995.12E-8-0.0151.87E-8PVR
rs1623264799811204GCGATS,STAG3intronic-0.0615.63E-4-0.0460.005-0.0157.97E-10TRIM4,GATS,STAG3,ZSCAN21,CNPY4,AP4M1,TAF6,PILRA
rs121484721579231478CTCTSHintronic-0.0500.047-0.0380.095-0.0146.29E-6CTSH
rs178543571165601560CGSNX32exonic-0.0330.133-0.0190.349-0.0143.12E-6FIBP,CFL1,EFEMP2,RNASEH2C,SNX32
rs22897021579237293TCCTSHexonic-0.0600.053-0.0350.213-0.0145.18E-5CTSH
rs13230744799797792GASTAG3intronic-0.0683.82E-4-0.0380.022-0.0145.52E-9TRIM4,GATS,STAG3,ZSCAN21,CNPY4,AP4M1,MBLAC1,TAF6,PILRA
rs22318841165656564TCFIBPupstream-0.0400.072-0.0230.252-0.0142.26E-6FIBP,CFL1,EFEMP2,RNASEH2C,SNX32
rs557739457100042413TCPPP1R35,C7orf61intergenic-0.0460.004-0.0430.004-0.0142.25E-10TRIM4,TSC22D4,MEPCE,PILRB,MBLAC1,PILRA
rs32129301945927610GAERCC1upstream-0.0676.44E-4-0.0540.003-0.0137.81E-7CD3EAP,ERCC1
rs38966091551057868ACSPPL2AUTR5-0.0845.29E-5-0.0683.87E-4-0.0132.76E-6SPPL2A,TRPM7,TNFAIP8L3
rs6537651559042012CTADAM10UTR5-0.0510.004-0.0601.17E-4-0.0133.10E-8FAM63B
rs789246451631154358AGPRSS36intronic-0.0620.001-0.0430.012-0.0131.09E-7RNF40,PRSS36,KAT8
rs752826811945596635GAPPP1R37exonic-0.0871.51E-4-0.0832.66E-5-0.0133.70E-5NKPD1
rs15492991631154146GAPRSS36exonic-0.0550.003-0.0420.011-0.0136.87E-8STX1B,SETD1A,RNF40,STX4,PRSS36,KAT8,CCDC189
rs176426651945594504GCGEMIN7UTR3-0.0782.73E-4-0.0813.26E-5-0.0133.42E-5-
rs776609321945594842CTGEMIN7downstream-0.0782.92E-4-0.0832.69E-5-0.0134.30E-5NKPD1
rs46084311945596281CAPPP1R37upstream-0.0792.47E-4-0.0813.43E-5-0.0124.14E-5-
rs175626761945601581AGPPP1R37intronic-0.0754.14E-4-0.0822.93E-5-0.0125.12E-5-
rs6410181165655393CGFIBPintronic-0.0330.100-0.0230.216-0.0124.46E-6FIBP,EFEMP2,RNASEH2C,SCYL1,SNX32
rs104178041945595765ACPPP1R37;GEMIN7upstream;downstream-0.0773.15E-4-0.0813.41E-5-0.0124.46E-5-
rs104171011945595277AGGEMIN7downstream-0.0773.50E-4-0.0813.78E-5-0.0124.57E-5-
rs1137089521945595003CAGEMIN7downstream-0.0766.99E-4-0.0822.72E-5-0.0126.06E-5NKPD1
rs795874151945607348TCPPP1R37intronic-0.0763.04E-4-0.0804.50E-5-0.0124.97E-5-
rs7332891945600586TGPPP1R37intronic-0.0764.30E-4-0.0813.69E-5-0.0125.47E-5-
rs705867799818927CTPVRIGUTR3-0.0490.002-0.0360.011-0.0121.75E-8TRIM56,MEPCE,ZSCAN21,PILRB,AP4M1,LAMTOR4,MBLAC1,ZCWPW1,LAMTOR4,PILRA
rs38528651951714065AGMIR8074,CD33intergenic-0.0863.30E-5-0.0632.02E-4-0.0121.43E-7ZNF577
rs352207521185652729TCCCDC83,PICALMintergenic-0.0984.57E-5-0.1014.08E-6-0.0122.45E-4-
rs5070621165661656CTFOSL1intronic-0.0340.090-0.0220.222-0.0128.62E-6FIBP,EFEMP2,RNASEH2C,SCYL1,SNX32
rs104099031945600991CTPPP1R37intronic-0.0738.95E-4-0.0813.70E-5-0.0127.01E-5-
rs35991721799728790TGMBLAC1,LAMTOR4intergenic-0.0714.64E-5-0.0583.79E-4-0.0126.18E-7TRIM4,GATS,STAG3,ZSCAN21,CNPY4,PILRB,AP4M1,TAF6,PILRA
rs104097271945602862TCPPP1R37intronic-0.0720.001-0.0804.03E-5-0.0127.58E-5-
rs2624219586447671TALOC101929380ncRNA_intronic-0.0320.073-0.0180.277-0.0121.93E-6RASA1
rs731542087143092664GCEPHA1intronic-0.1322.83E-6-0.0921.01E-4-0.0122.51E-4ZYX
rs20709021161187665TCFCER1Gintronic-0.0490.008-0.0460.005-0.0121.77E-6NDUFS2,PPOX
rs1534310799699169TAAP4M1,MCM7UTR5-0.0642.51E-4-0.0529.91E-4-0.0121.37E-6TRIM4,GATS,STAG3,CNPY4,ZSCAN21,PILRB,AP4M1,PILRA,TAF6
rs2070215799696797CTMCM7exonic-0.0570.001-0.0510.001-0.0121.92E-6TRIM4,STAG3,ZSCAN21,CNPY4,AP4M1,TAF6,PILRA
rs48022351945224836TGCEACAM16,BCL3intergenic-0.1126.86E-9-0.1301.05E-13-0.0112.10E-6CD3EAP,PVR,CEACAM19,BCL3
rs530324827491186CGSCARA3upstream-0.0621.61E-4-0.0460.002-0.0112.94E-7CLU
rs1624099799811313GAGATS,STAG3intronic-0.0460.003-0.0350.015-0.0111.88E-7TRIM56,MEPCE,ZSCAN21,PILRB,AP4M1,LAMTOR4,MBLAC1,ZCWPW1,LAMTOR4,PILRA
rs26528171563483290AGRAB8Bintronic-0.0450.017-0.0180.282-0.0111.92E-5TPM1,RAB8B,LACTB
rs27297911563493057GTRAB8Bintronic-0.0400.033-0.0180.284-0.0112.14E-5TPM1,RAB8B,LACTB
rs42951761556298CGACEintronic-0.0470.004-0.0450.003-0.0118.27E-7ACE,FTSJ3
rs25263771756410041GABZRAP1-AS1ncRNA_intronic-0.0781.06E-6-0.0711.95E-6-0.0117.23E-7TRIM37,SKA2
rs26325161756409089CGBZRAP1-AS1ncRNA_intronic-0.0789.52E-7-0.0753.67E-7-0.0117.63E-7TRIM37,SKA2
rs42921761554341CTACEupstream-0.0490.003-0.0450.003-0.0112.19E-6ACE,FTSJ3,CYB561
rs38148771630042677TGFAM57Bupstream-0.0500.002-0.0390.009-0.0102.32E-6TAOK2,YPEL3,MAPK3,PPP4C,TMEM219,INO80E,DOC2A
rs4147904191040765GAABCA7intronic-0.1006.80E-6-0.0912.01E-8-0.0101.59E-6-
rs3764642191040046AGABCA7;CNN2upstream;downstream-0.1023.70E-6-0.0947.45E-9-0.0101.78E-6-
rs25263781756404349GABZRAP1-AS1ncRNA_intronic-0.0761.22E-6-0.0727.74E-7-0.0102.88E-6TRIM37
rs11718301061665886ACCCDC6exonic-0.0340.030-0.0360.013-0.0104.37E-6CCDC6
rs3956011559063196CGFAM63Bupstream-0.0510.001-0.0499.13E-4-0.0105.26E-6FAM63B,ADAM10
rs8108847191015961GATMEM259intronic-0.0440.047-0.0460.004-0.0105.86E-6-
rs344803601630798689AGZNF629upstream-0.0340.052-0.0250.129-0.0103.84E-5STX1B,RNF40,STX4,PRSS36,ZNF689,KAT8,CCDC189
rs7611795345098350CTCLEC3B,CDCP1intergenic-0.1004.52E-4-0.1202.37E-6-0.0100.010ZNF502
rs98745593155337427CTPLCH1intronic-0.0566.01E-4-0.0380.012-0.0101.22E-5PLCH1,SLC33A1
rs102125933155347487TGPLCH1intronic-0.0556.31E-4-0.0380.012-0.0101.42E-5PLCH1,SLC33A1
rs37474861630786927TCRNF40UTR3-0.0340.053-0.0250.128-0.0105.47E-5STX1B,RNF40,STX4,PRSS36,ZNF689,KAT8,CCDC189
rs646392871595839AGTMEM184AUTR5-0.0616.41E-4-0.0440.005-0.0101.51E-5PSMG3,INTS1,NUDT1
rs11718321061667817GCCCDC6,LINC01553intergenic-0.0330.034-0.0360.013-0.0109.40E-6CCDC6
rs357132031631090407CGZNF646exonic-0.0440.006-0.0340.023-0.0092.29E-5STX1B,SETD1A,STX4,PRSS36,KAT8,ZNF668,TRIM72,CCDC189
rs71977171631083075CAZNF668intronic-0.0400.012-0.0360.014-0.0091.95E-5STX1B,SETD1A,STX4,PRSS36,KAT8,CCDC189
rs70800091082269461TCTSPAN14intronic-0.0570.004-0.0772.18E-5-0.0098.58E-4FAM213A,ANXA11,TSPAN14
rs18701381082269611AGTSPAN14intronic-0.0580.003-0.0762.33E-5-0.0098.73E-4FAM213A,ANXA11,TSPAN14
rs587262131631044683GASTX4intronic-0.0390.016-0.0360.014-0.0094.42E-5STX1B,SETD1A,RNF40,STX4,PRSS36,KAT8,ZNF668,TRIM72,CCDC189
rs1176076971583941CTTMEM184AUTR3-0.0564.98E-4-0.0420.004-0.0093.48E-5PSMG3,INTS1
rs20944731492955508AGSLC24A4intronic-0.0420.022-0.0500.002-0.0091.72E-4RIN3
rs124456501631044897AGSTX4UTR5-0.0370.021-0.0360.016-0.0095.18E-5STX1B,SETD1A,STX4,PRSS36,KAT8,CCDC189
rs5140491559042363ACADAM10upstream-0.0490.002-0.0450.002-0.0093.49E-5FAM63B,ADAM10
rs96337401082265271AGTSPAN14intronic-0.0560.005-0.0762.69E-5-0.0090.001FAM213A,ANXA11,TSPAN14
rs78968321082257570TCTSPAN14intronic-0.0570.004-0.0752.87E-5-0.0090.001FAM213A,ANXA11,TSPAN14
rs1060544799613476TCZKSCAN1intronicNANA-0.0547.11E-4-0.0094.60E-4TRIM4,GATS,STAG3,CNPY4,ZSCAN21,PILRB,AP4M1,PILRA,TAF6
rs51571945447161TCAPOC4-APOC2ncRNA_intronic-0.1115.40E-11-0.0926.67E-10-0.0095.44E-5APOE,APOC1
rs124455681631004812CTSTX1Bintronic-0.0360.028-0.0320.030-0.0099.11E-5STX1B,SETD1A,STX4,PRSS36,KAT8,CCDC189
rs3447911945829794CGCKM,KLC3intergenic-0.0470.004-0.0440.003-0.0081.10E-4CD3EAP,ERCC2
rs3447921945829382AGCKM,KLC3intergenic-0.0460.004-0.0460.002-0.0081.37E-4CD3EAP,ERCC2
rs7304278471584078CTTMEM184AUTR3-0.0537.58E-4-0.0440.003-0.0081.78E-4PSMG3,INTS1
rs18701371082269848CGTSPAN14intronicNANA-0.0772.09E-5-0.0080.011FAM213A,ANXA11,TSPAN14
rs48038231945946399TCMIR6088,FOSBintergenic-0.0590.004-0.0300.102-0.0070.005CD3EAP,PPM1N
rs1134058691945620513TGPPP1R37intronic-0.0610.008-0.0735.91E-4-0.0070.051NKPD1
rs558761531147416636AGSPI1,MIR4487intergenic-0.0721.53E-5-0.0954.43E-10-0.0060.012FNBP4,NUP160,C1QTNF4,DDB2,MADD,PSMC3,MTCH2,NDUFS3,SPI1,ACP2
rs22935771147437202CTSLC39A13UTR3-0.0751.05E-5-0.0921.22E-9-0.0060.011FNBP4,NUP160,C1QTNF4,MADD,PSMC3,MTCH2,SPI1,ACP2
rs122235931147789082TGFNBP4upstreamNANA-0.0624.77E-5-0.0060.024FNBP4,NUP160,MADD,SLC39A13,MTCH2
rs714759091147377283AGSPI1intronicNANA-0.0841.01E-7-0.0050.623FNBP4,NUP160,MADD,MTCH2,SPI1
rs110392001147379646CASPI1intronic-0.0758.80E-6-0.0921.89E-9-0.0050.026FNBP4,C1QTNF4,DDB2,MADD,PSMC3,MTCH2,NDUFS3,SPI1,ACP2
rs107723351210766244ACMAGOHBupstream-0.0793.31E-5-0.0280.112-0.0040.117STYK1
rs99214011619919338GCGPRC5B,GPR139intergenic-0.0680.001-0.0865.25E-6-0.0040.149KNOP1,KNOP1,GPRC5B
rs21989651210766705CGMAGOHBupstream-0.0792.88E-5-0.0280.110-0.0040.123STYK1
rs121028691619918987CTGPRC5B,GPR139intergenic-0.0670.001-0.0874.21E-6-0.0040.155KNOP1,GPRC5B
rs67984313128303373TCLINC01565,RPN1intergenic-0.0758.12E-6-0.0430.004-0.0030.148RPN1
rs98362573128303483TCLINC01565,RPN1intergenic-0.0711.31E-5-0.0430.004-0.0030.163RPN1
rs92893303128311067GCLINC01565,RPN1intergenic-0.0718.69E-6-0.0410.005-0.0030.248RPN1
rs356249921147615798CGC1QTNF4UTR5NANA-0.0863.35E-8-0.0020.366FNBP4,NUP160,C1QTNF4,PSMC3,MADD,MTCH2,KBTBD4,NDUFS3,SPI1
rs107345571147380061ACSPI1intronicNANA-0.0981.76E-10-0.0020.453FNBP4,C1QTNF4,DDB2,MADD,PSMC3,MTCH2,NDUFS3,SPI1,ACP2
rs104132371918548249ACISYNA1intronicNANA-0.0651.53E-5-0.0020.509ISYNA1,ELL,TMEM221
rs727495601582476664GAEFTUD1intronic-0.0846.24E-6-0.0681.03E-4-0.0020.559RPS17,CPEB1,SAXO2
rs80065601475349101CTDLSTintronic0.1356.80E-60.0952.02E-4-0.0010.720DLST
rs23036961918548884TCISYNA1intronicNANA-0.0661.89E-5-0.0010.830ELL
rs716429261193599019CTLINC01031,NONEintergenic0.0844.33E-50.0620.0010.0010.618-
rs15423211147379615AGSPI1intronicNANA0.0981.88E-100.0020.447FNBP4,C1QTNF4,DDB2,MADD,PSMC3,MTCH2,KBTBD4,NDUFS3,SPI1,ACP2
rs283753031918530161GTSSBP4UTR50.0754.95E-50.0702.02E-50.0020.316ISYNA1,ELL
rs72579321918527257AGLRRC25,SSBP4intergenic0.0661.53E-40.0601.01E-40.0030.237ELL
rs22704251475179734GCAREL1UTR50.0793.02E-50.0642.45E-40.0030.231AREL1
rs110393761147789549TGFNBP4upstream0.0601.15E-40.0522.81E-40.0030.130FNBP4,C1QTNF4,NUP160,PSMC3,MADD,MTCH2,NR1H3,SPI1
rs71116061147787538AGFNBP4intronic0.0601.23E-40.0512.95E-40.0030.122FNBP4,C1QTNF4,NUP160,PSMC3,MADD,MTCH2,NR1H3,SPI1
rs71115761147787445AGFNBP4intronic0.0601.12E-40.0522.92E-40.0030.120FNBP4,C1QTNF4,NUP160,PSMC3,MADD,MTCH2,NR1H3,SPI1
rs107428141147554337AGCELF1intronic0.0627.39E-50.0531.75E-40.0030.117FNBP4,C1QTNF4,NUP160,MADD,SLC39A13,MTCH2,SPI1
rs125993241670723404AGVAC14intronic0.0652.88E-50.0531.96E-40.0040.079VAC14
rs104094831918590223GCELLintronic0.0665.27E-50.0623.38E-50.0040.088ISYNA1,ELL
rs116474791670710549ACMTSS1Lintronic0.0673.54E-50.0603.16E-50.0040.079VAC14
rs38262721670725141ACVAC14intronic0.0627.13E-50.0522.89E-40.0040.074VAC14
rs49855601670724432ACVAC14intronic0.0643.67E-50.0531.87E-40.0040.073VAC14
rs104259821918586519ATELLintronic0.0664.49E-50.0623.38E-50.0040.083ISYNA1,ELL
rs110389131146559730CTAMBRA1intronic0.0870.0020.1181.04E-60.0040.251MADD
rs81036221918572834TCELLintronic0.0673.29E-50.0661.28E-50.0040.066ELL
rs6684490140356155GATRIT1,MYCLintergenic0.0674.81E-40.0741.54E-50.0040.113TRIT1
rs358742061670720630GCMTSS1L;VAC14upstream;downstream0.0617.97E-50.0514.19E-40.0040.045VAC14,EXOSC6
rs72584651918533642CTSSBP4intronic0.0742.14E-50.0661.17E-50.0040.054ELL
rs104270831918550276ACISYNA1,ELLintergenic0.0675.17E-50.0632.62E-50.0040.050ELL,TMEM221
rs104421918545341CAISYNA1,SSBP4UTR30.0674.46E-50.0632.88E-50.0040.051ELL
rs68791745139654732GAPFDN1intronic0.0681.74E-50.0541.38E-40.0040.039PFDN1,SLC4A9,CYSTM1
rs61781270140349428AGTRIT1upstream0.0674.79E-40.0777.11E-60.0050.095TRIT1
rs45959051918547305ATISYNA1intronic0.0674.61E-50.0632.85E-50.0050.046ISYNA1,ELL,TMEM221
rs110757791670723314CTVAC14intronic0.0652.63E-50.0584.86E-50.0050.032VAC14
rs23850881918545540GAISYNA1UTR30.0693.64E-50.0661.26E-50.0050.036ELL
rs2697675139536922GALOC101929719ncRNA_exonic0.0662.26E-50.0460.0010.0050.019PFDN1,ZMAT2,SLC4A9,CYSTM1
rs347469181918539744TCSSBP4intronic0.0693.05E-50.0651.97E-50.0050.023ELL
rs37458021946271177TGSIX5intronic0.0618.75E-50.0621.40E-50.0050.015DMPK
rs6352991946274171CADMPKintronic0.0644.25E-50.0631.03E-50.0050.014DMPK
rs621117591946296230TADMWDupstream0.0635.08E-50.0611.85E-50.0050.014DMPK
rs744861661146700203CGARHGAP1UTR30.1131.87E-50.1138.28E-70.0050.128MADD
rs49130795139683029GAPFDN1upstream0.0661.78E-50.0531.81E-40.0050.013PFDN1,CYSTM1
rs603564581946234632CTFBXO46upstream0.0645.12E-50.0613.06E-50.0050.013DMPK,FBXO46
rs15601171918512932TCLRRC25,SSBP4intergenic0.0632.98E-40.0587.79E-50.0060.009ELL
rs23371385139691664CAPFDN1,HBEGFintergenic0.0671.57E-50.0551.32E-40.0060.008CYSTM1
rs560245481773084331TCSLC16A5intronic0.1790.0040.1380.0020.0070.358NT5C,KCTD2
rs122915151176447123GAGUCY2EP,TSKUintergenic0.0873.87E-40.0998.28E-60.0070.044-
rs20145761946269076AGSIX5exonic0.0718.68E-60.0603.00E-50.0070.002DMPK
rs98138453128399623GCRPN1,RAB7Aintergenic0.0665.93E-50.0230.1270.0070.003RPN1
rs27123813128338600ACRPN1downstream0.0662.45E-50.0310.0310.0070.001RPN1
rs28114883128336517CTLINC01565,RPN1intergenic0.0691.05E-50.0310.0340.0070.001RPN1
rs2074441191073409CGHMHA1intronic0.0801.60E-50.0675.53E-50.0080.003POLR2E,ABCA7
rs10086852827238115GCPTK2Bintronic0.0536.62E-40.0514.75E-40.0081.54E-4STMN4,TRIM35,PTK2B
rs22802311147600438TCKBTBD4UTR50.0751.84E-50.0671.99E-50.0085.99E-4FNBP4,NUP160,MADD,MTCH2
rs714759211147573342AGCELF1intronic0.0749.85E-60.0652.50E-50.0091.96E-4FNBP4,NUP160,MADD,MTCH2,SPI1
rs71205481147662932CTMTCH2intronic0.0722.29E-50.0661.48E-50.0091.77E-4FNBP4,NUP160,MADD,MTCH2,SPI1
rs283715831207494679GACD55upstream0.0460.0080.0440.0060.0092.29E-4CD55
rs1178000841773104954CTSLC16A5,ARMC7intergenic0.1560.0020.1240.0050.0090.191NT5C,KCTD2
rs1178761161773105877AGARMC7upstream0.1560.0020.1240.0050.0090.190NT5C,KCTD2
rs105013201147293799CGMADDintronic0.0822.98E-60.0893.58E-80.0091.46E-4LRP4,MADD,MTCH2,ARHGAP1,NR1H3
rs796520071773106122CAARMC7UTR50.1982.88E-40.1290.0030.0100.166KCTD2
rs99363291631140799TGKAT8intronicNANA0.0260.0720.0103.93E-5SETD1A,KAT8,BCKDK,ZNF668,CCDC189
rs110391591147294021TGMADDintronic0.0645.28E-50.0692.74E-60.0101.38E-5DDB2,MADD,MTCH2,NR1H3,ACP2
rs563144081631117389TCVKORC1,BCKDKintergenic0.0410.0100.0250.0830.0107.73E-6SETD1A,STX4,KAT8,BCKDK,PYDC1,ZNF668,CCDC189
rs110391491147276675GANR1H3intronic0.0793.65E-60.0863.79E-80.0105.69E-5DDB2,MADD,MTCH2,NR1H3,ACP2
rs23032221631085470CTZNF668UTR50.0410.0110.0270.0660.0106.03E-6STX1B,SETD1A,KAT8,BCKDK,ZNF668,CCDC189
rs80508941631104509GCVKORC1intronic0.0410.0100.0280.0550.0105.66E-6STX1B,SETD1A,KAT8,BCKDK,ZNF668,CCDC189
rs127169821631128668ACKAT8upstream0.0430.0070.0280.0610.0105.29E-6SETD1A,KAT8,BCKDK,ZNF668,CCDC189
rs104014391946320780TCSYMPKintronic0.0749.64E-60.0705.50E-60.0101.48E-5SYMPK
rs286716924112912462CTPITX2,C4orf32intergenic0.0220.1950.0290.0680.0101.40E-5C4orf32,AP1AR,TIFA
rs99394171631053467TCSTX4,ZNF668intergenic0.0380.0210.0260.0790.0104.40E-6STX1B,SETD1A,STX4,KAT8,BCKDK,ZNF668,CCDC189
rs20329151631117413TCVKORC1,BCKDKintergenic0.0400.0150.0260.0720.0105.08E-6SETD1A,KAT8,BCKDK,ZNF668,CCDC189
rs19784871631129942CTKAT8intronic0.0450.0060.0270.0690.0103.85E-6SETD1A,KAT8,BCKDK,ZNF668,CCDC189
rs99344381631104878AGVKORC1intronic0.0370.0200.0290.0500.0103.84E-6STX1B,SETD1A,STX4,KAT8,BCKDK,ZNF668,CCDC189
rs11718121061655297CTCCDC6intronic0.0410.0090.0350.0150.0102.60E-6CCDC6
rs8100672191021637TCTMEM259;RNU6-2upstream;downstreamNANA0.1011.28E-70.0109.32E-5-
rs38504814112912678AGPITX2,C4orf32intergenic0.0220.1990.0290.0660.0107.84E-6C4orf32,AP1AR,TIFA
rs75172891161101890CADEDDintronic0.0310.0490.0340.0200.0103.03E-6KLHDC9,NDUFS2,PPOX,B4GALT3,DEDD,NIT1
rs118704741773030810ACNONE,ATP5Hintergenic0.1685.43E-40.1922.60E-50.0100.097NUP85,KCTD2
rs15492931631141993TCKAT8intronic0.0410.0130.0260.0750.0102.43E-6SETD1A,KAT8,BCKDK,ZNF668,CCDC189
rs72492441945245698TCCEACAM16,BCL3intergenic0.0280.1100.0470.0020.0111.18E-6-
rs108387021147410888TGSPI1,MIR4487intergenic0.0728.98E-60.0786.68E-80.0111.46E-6FNBP4,NUP160,MADD,SLC39A13,MTCH2,NDUFS3,SPI1
rs79474501147429904AGSLC39A13upstream0.0724.39E-60.0771.22E-70.0111.38E-6FNBP4,NUP160,MADD,SLC39A13,MTCH2,SPI1
rs110392251147430599AGSLC39A13intronic0.0724.46E-60.0761.32E-70.0111.36E-6FNBP4,NUP160,MADD,SLC39A13,MTCH2,SPI1
rs557177011773107000GAARMC7intronic0.2133.37E-40.1240.0050.0110.133NT5C,KCTD2
rs23012871161136843GCPPOXintronic0.0330.0410.0350.0180.0111.53E-6KLHDC9,NDUFS2,PPOX,DEDD
rs23012861161136224ACPPOXUTR50.0320.0460.0360.0150.0111.43E-6KLHDC9,NDUFS2,PPOX,DEDD
rs71996181670673517AGIL34intronicNANANANA0.0111.07E-5IL34,EXOSC6
rs71038081160078176GAMS4A4A,MS4A6Eintergenic0.0702.24E-50.0766.51E-70.0112.53E-6-
rs71912491670669268TCIL34intronic0.0330.0450.0190.1950.0112.28E-6IL34,WWP2,EXOSC6
rs19684894113034504CTPITX2,C4orf32intergenic0.0120.5070.0210.1900.0115.12E-6TIFA
rs72101631773031190AGNONE,ATP5Hintergenic0.1871.54E-40.2021.09E-50.0110.094ATP5H,KCTD2
rs1178636711773098838ATSLC16A5intronic0.1590.0020.1230.0050.0110.120NT5C,ATP5H,KCTD2
rs44672182127783276CGGYPC,BIN1intergenic0.0370.0610.0510.0040.0111.92E-5-
rs29651551945188471TCCEACAM19downstream0.0470.0030.0300.0370.0111.39E-7CEACAM19
rs359170751773017481GAICT1downstream0.1911.15E-40.1924.53E-50.0110.123NT5C,ATP5H,KCTD2
rs65092011945714978ACEXOC3L2downstreamNANA0.1176.32E-90.0112.63E-6-
rs129432811773030094AGNONE,ATP5Hintergenic0.1891.32E-40.2021.07E-50.0120.054ATP5H,KCTD2
rs38139051670680850GCIL34UTR50.0360.0330.0180.2260.0123.49E-7WWP2,EXOSC6
rs107970931161103445GTDEDDupstream0.0320.0570.0360.0190.0126.25E-7KLHDC9,NDUFS2,PPOX
rs115830451161100336ATDEDDintronicNANA0.0370.0220.0124.38E-6KLHDC9,NDUFS2,PPOX
rs72180041773028843AGICT1,ATP5Hintergenic0.1871.60E-40.2098.54E-60.0120.088ATP5H,KCTD2
rs37546092127829943CTBIN1intronic0.0480.0180.0627.15E-40.0126.93E-6-
rs124590741945608832CGPPP1R37intronic0.0580.0010.0530.0010.0126.16E-7-
rs76016560174891092AGCAMTA2;INCA1upstream;downstream0.0760.0010.0470.0320.0121.94E-4ZNF232
rs109088261161172525TCNDUFS2intronic0.0190.4000.0100.6110.0133.90E-5NDUFS2
rs64645477143083661ACZYXintronic0.0942.31E-60.0602.36E-40.0139.47E-9-
rs37606291945458146CACLPTM1intronic0.0983.77E-100.1061.22E-130.0139.89E-10APOE,APOC1
rs104267501945457684CGCLPTM1upstream0.0992.77E-100.1051.76E-130.0137.51E-10APOE,APOC1
rs72481621945454686CTAPOC4-APOC2,CLPTM1intergenic0.1045.51E-110.1061.14E-130.0135.42E-10APOE,APOC1
rs38136231161169165TGNDUFS2UTR50.0230.2880.0090.6600.0131.85E-5NDUFS2
rs11318857143088526CTEPHA1UTR30.0922.24E-60.0611.57E-40.0142.54E-9-
rs3809846174902564CTKIF1Cintronic0.0730.0030.0440.0580.0146.80E-5RABEP1,PLD2,ZNF232,MINK1,SPAG7
rs112345521185846187GAPICALM,EEDintergenic0.0665.90E-40.0470.0070.0142.75E-7PICALM
rs72524801945458925TCCLPTM1intronic0.0771.19E-50.0796.39E-70.0144.15E-9APOC1
rs22386821945458593TCCLPTM1UTR50.0843.26E-60.0804.87E-70.0142.50E-9APOC1
rs75364577191028149AGCNN2intronic0.1831.19E-60.1093.93E-60.0142.00E-6-
rs1004173647445017TCCD2APupstream0.0974.55E-80.0831.76E-70.0145.64E-9-
rs4147929191063443AGABCA7intronic0.1351.70E-90.1229.56E-100.0144.43E-7POLR2E,ABCA7
rs112345621185863769GTPICALM,EEDintergenic0.0693.70E-40.0480.0070.0141.27E-7PICALM
rs76101349174902473TCKIF1Cintronic0.0850.0010.0690.0070.0151.06E-4SPNS2,ZNF232
rs71585551453362006GAFERMT2intronic0.0922.86E-40.0862.09E-40.0151.80E-5ERO1A
rs4732729827461492ACCLUintronic0.1091.26E-90.0998.00E-100.0159.63E-11SCARA3
rs38074757100026292AGZCWPW1UTR50.0728.24E-40.0732.29E-40.0153.86E-7MEPCE,ZSCAN21,PILRB,AP4M1,PILRA
rs2283568174852305AGPFN1UTR50.0720.0110.0510.0230.0151.28E-5PLD2,ZNF232,MINK1,SPAG7
rs755951827226790CAPTK2Bintronic0.0821.99E-70.0823.79E-80.0151.13E-11PTK2B
rs47274557100070680AGTSC22D4intronic0.0710.0010.0771.23E-40.0152.53E-7MEPCE,ZSCAN21,PILRB,AP4M1,PILRA
rs73223431827219987TCPTK2Bintronic0.0911.38E-80.0948.34E-100.0151.09E-11TRIM35,PTK2B
rs29651561945188429GCCEACAM19downstream0.0530.0010.0561.42E-40.0151.18E-12PVR,CEACAM19
rs355775631945504349GCRELBupstream0.1022.68E-90.0904.76E-90.0152.85E-12APOC1,CLPTM1
rs16954243174812403TACHRNE,GP1BAintergenic0.1218.30E-50.0855.65E-40.0152.86E-5ZNF232,SPAG7
rs13236234799963018CTSTAG3L5P-PVRIG2P-PILRBncRNA_intronic0.0680.0010.0650.0010.0161.28E-7MEPCE,ZSCAN21,PILRB,PILRA
rs72835022174757729CGMINK1intronic0.1151.81E-50.0912.41E-40.0162.79E-5PLD2,ZNF232,SPAG7
rs2302315174806428AGCHRNE;C17orf107upstream;downstream0.1123.49E-50.0883.57E-40.0161.75E-5ZNF232,SPAG7
rs79436576174805167TCC17orf107UTR30.1164.79E-50.0893.06E-40.0162.10E-5ZNF232
rs115858581161156033ACB4GALT3,ADAMTS4intergenic0.0490.0100.0370.0270.0165.05E-10NDUFS2
rs113426708174823657AGCHRNE,GP1BAintergenic0.1095.26E-50.0855.95E-40.0161.53E-5SPNS2,ZNF232,SPAG7
rs56067981174801966AGCHRNEUTR30.1181.43E-50.0902.58E-40.0161.43E-5ZNF232,NUP88,SPAG7
rs619756521492859161AGSLC24A4intronic0.0560.0210.0510.0190.0164.29E-6-
rs799994955176936194CGDOK3intronic0.1170.0030.1187.91E-40.0163.55E-4FAM193B
rs21611105176936272TGDOK3intronic0.1170.0030.1189.66E-40.0163.87E-4FAM193B
rs45750981161155392AGB4GALT3,ADAMTS4intergenic0.0410.0250.0380.0230.0161.90E-10NDUFS2
rs34461890174806718CTCHRNE;C17orf107upstream;downstream0.1211.07E-50.0855.09E-40.0168.09E-6ZNF232,SPAG7
rs130321482127865100AGBIN1upstream0.1061.87E-100.1031.01E-110.0178.73E-13BIN1
rs22423205176943673TCDDX41intronic0.1586.06E-40.1149.20E-40.0171.88E-4FAM193B
rs3354555176972620CTFAM193Bintronic0.1332.43E-40.1030.0020.0181.54E-5FAM193B
rs37497285176936819GCDOK3exonic0.1170.0030.1130.0010.0184.16E-5FAM193B
rs56229705175014789AGZNF232intronic0.0885.87E-40.0540.0210.0181.00E-7RABEP1,ZNF232,NUP88,SPAG7
rs1176180171563569902TCAPH1Bexonic0.0770.0630.0942.38E-40.0183.44E-8APH1B
rs21121815176936590CTDOK3exonic0.1180.0020.1130.0010.0183.69E-5FAM193B
rs56152541175001027CTZFP3,ZNF232intergenic0.0830.0020.0460.0500.0184.69E-8RABEP1,ZNF232,NUP88,SPAG7
rs10406449191040773AGABCA7intronicNANA0.0820.0380.0180.001TMEM259
rs113151753175185365GCRABEP1upstream0.1032.24E-50.0755.51E-40.0181.80E-8RABEP1,SPNS2,ZNF232,NUP88
rs71243961147787434TGFNBP4intronic0.0572.33E-40.0504.44E-40.0186.05E-4FNBP4,C1QTNF4,NUP160,MADD,MTCH2,NDUFS3,SPI1
rs787109092127864922CGBIN1upstreamNANA0.1054.44E-70.0180.245BIN1
rs733360145176966623CTFAM193Bintronic0.1312.72E-40.1080.0010.0181.51E-5FAM193B
rs126185932127886371CTBIN1,CYP27C1intergenic0.1267.77E-130.1252.87E-150.0206.16E-17BIN1
rs130257172127886158TCBIN1,CYP27C1intergenic0.1267.94E-130.1252.98E-150.0205.98E-17BIN1
rs130257652127886233TCBIN1,CYP27C1intergenic0.1267.87E-130.1253.25E-150.0205.94E-17BIN1
rs126178352127886416CABIN1,CYP27C1intergenic0.1267.70E-130.1252.84E-150.0205.50E-17BIN1
rs75511804175138304TCLOC100130950ncRNA_exonic0.1069.61E-60.0851.14E-40.0201.46E-9RABEP1,SPNS2,ZNF232,NUP88
rs115545862127864546AGBIN1UTR50.1011.53E-60.0934.18E-70.0211.03E-13-
rs113683483799679295TCZNF3UTR50.0830.0320.0450.1510.0232.36E-6ZSCAN21
rs72519111945582402GCGEMIN7upstream0.0950.1980.1222.93E-40.0251.85E-10EML2
rs351940621945505177ACRELBintronic0.2215.67E-70.3052.38E-140.0271.37E-7-
rs44520601945347911ACBCAM,PVRL2intergenic0.2001.29E-310.1832.82E-330.0321.24E-49TOMM40
rs29274871945225973GCCEACAM16,BCL3intergenic0.2244.23E-230.1985.23E-230.0333.91E-31TOMM40,CEACAM19
rs104245171945596517AGPPP1R37UTR5NANA0.1069.85E-70.0340.023-
rs104108331945668327TCTRAPPC6Aintronic0.2692.81E-190.2151.39E-150.0461.37E-32TRAPPC6A
rs121622221945348522TGPVRL2upstream0.3303.89E-720.2905.22E-730.0544.11E-110CEACAM19
rs1173166451945458212AGCLPTM1intronic0.2394.26E-110.2718.95E-150.0554.78E-24-
rs124598101945249661TCCEACAM16,BCL3intergenic0.3276.77E-430.2187.50E-340.0834.08E-44CEACAM19
rs1176121351945504527TCRELBupstream0.7972.08E-180.5176.59E-120.1416.26E-47-

aNote:

CHR: chromasome; POS: position; A1: alternative allele; A2: reference allele; IGAP_beta: GWAS beta value from the Lambert study; IGAP_Pvalue: GWAS P value from the Lambert study (Lambert et al., 2013); Kunkle_beta: GWAS beta value from the Kunkle study; Kunkle_Pvalue: GWAS P value from the Kunkle study (Kunkle et al., 2019); Jansen_beta: GWAS beta value from the Jansen study; Jansen_Pvalue: GWAS P value from the Jansen study (Jansen et al., 2019); Histone_mod: total number of datasets that had histone modification peaks (false discovery rate, FDR<0.001) overlapping with the target variant; ATAC: total number of assay for transposase-accessible chromatin with high throughput sequencing (ATAC-seq) datasets that had open chromatin peaks overlapping with the target variant (FDR<0.001); diffTF: total number of transcriptional factors (TFs) that could bind to the DNA element harboring the target variant (FDR<0.05) and binding affinities of these TFs with the DNA element were predicted to be significantly affected by different alleles of the target variant (P_rank<0.05); eQTL: expressional quantitive loci (eQTL) gene for the target variant (P<0.001).