Table 3.
Fine-mapping region | Gene | Lead variant | Distal | Proximal | Coding | Colocalization (eQTL) | Colocalization (mQTL) |
---|---|---|---|---|---|---|---|
region_1 | CELA3B | rs11579545 | + | ||||
region_1 | HSPG2 | rs11579545 | + | + | + | ||
region_5 | PTGER3 | rs2651244 | + | ||||
region_7 | TNFSF18 | rs10489274 | + | ||||
region_9 | LGR6 | rs12122827 | + | ||||
region_10 | CNTN2 | rs12078075 | + | + | |||
region_12 | FMN2 | rs2078095 | + | ||||
region_14 | PPP1R21 | rs77272589 | + | + | |||
region_16 | LCT | rs1446585 | + | ||||
region_21 | GOLGA4 | rs1800734 | + | ||||
region_21 | MLH1 | rs1800734 | + | + | |||
region_24 | ADAMTS9 | rs6445418 | + | ||||
region_24 | PRICKLE2 | rs704417 | + | ||||
region_27 | SLCO2A1 | rs113569514 | + | ||||
region_28 | LRRC34 | rs10936599 | + | ||||
region_28 | ACTRT3 | rs10936599 | + | + | |||
region_28 | MYNN | rs10936599 | + | + | |||
region_34 | HPGD | rs1426947 | + | ||||
region_42 | LY86 | rs1294438 | + | ||||
region_44 | OR2I1P | rs73402748 | + | ||||
region_46 | SRPK1 | rs16878812 | + | ||||
region_49 | RUNX2 | rs57939401 | + | ||||
region_55 | IGFBP3 | rs80077929 | + | ||||
region_62 | MYC | rs4733655, rs6983267 | + | ||||
region_63 | CDKN2B | rs7859362 | + | ||||
region_63 | MTAP | rs7859362 | + | ||||
region_68 | VAV2 | rs7038489 | + | ||||
region_73 | KIF20B | rs140356782 | + | ||||
region_73 | PANK1 | rs140356782 | + | + | |||
region_74 | GOT1 | rs117746067 | + | ||||
region_75 | BORCS7 | rs12268849 | + | ||||
region_75 | AS3MT | rs12268849 | + | + | |||
region_79 | ANO1 | rs10751097 | + | ||||
region_92 | NTN4 | rs11108175 | + | ||||
region_93 | CUX2 | rs3858704 | + | ||||
region_94 | TBX3 | rs7300312, rs11067228 | + | + | |||
region_96 | USP12 | rs116964464 | + | ||||
region_101 | IRS2 | rs1078563 | + | ||||
region_101 | COL4A2 | rs4773184 | + | ||||
region_107 | BCL11B | rs80158569 | + | ||||
region_108 | GOLGA8N | rs56338436 | + | ||||
region_110 | SENP8 | rs8031386 | + | + | |||
region_111 | CIB1 | rs12913420 | + | + | |||
region_111 | ZNF774 | rs7179095 | + | ||||
region_119 | MYL12A | rs1612128 | + | ||||
region_119 | MYL12B | rs1612128 | + | ||||
region_119 | TGIF1 | rs1612128 | + | ||||
region_125 | B3GNT8 | rs1963413 | + | ||||
region_133 | CEBPB | rs1971480 | + | ||||
region_134 | RBM38 | rs34161672 | + | ||||
region_134 | BMP7 | rs6014965 | + | + | |||
region_138 | LSS | rs9983528 | + | + | |||
region_138 | PCNT | rs9983528 | + | + | |||
region_138 | SPATC1L | rs9983528 | + | + | |||
region_142 | WNT7B | rs62228060 | + | ||||
region_142 | ATXN10 | rs78106213 | + |
The lead variant for each gene is presented by independent association signals. Supporting evidence for the likely target gene is presented as follows: “Distal”—the CCV(s) located in distal enhancer elements of the gene; “Proxmial”—the CCV(s) located in proximal promoter element of the gene; “Coding”—the CCV is potential loss-of-function variants of the gene; “Colocalization (eQTL)”—target genes identified from eQTL colocalization analysis; “Colocalization (mQTL)”—target genes identified from mQTL colocalization analysis. “+” indicates the presense of supportive evidence.