Table 4.
Fine-mapping region | Gene | Lead variant | Distal | Proximal | Coding | Colocalization (eQTL) | Colocalization (mQTL) |
---|---|---|---|---|---|---|---|
region_1 | WNT4 | rs6426749 | + | ||||
region_2 | FHL3 | rs61776719 | + | + | |||
region_8 | LAMC1 | rs8179460 | + | + | |||
region_9 | LMOD1 | rs12137232 | + | + | |||
region_15 | ACTR1B | rs11692435 | + | + | |||
region_18 | STK39 | rs4668039 | + | + | + | ||
region_20 | TMBIM1 | rs3731861 | + | + | + | + | |
region_23 | SFMBT1 | rs2001732, rs2581817 | + | + | |||
region_26 | BOC | rs73235124 | + | ||||
region_30 | TET2 | rs2047409, rs902443 | + | + | |||
region_31 | UGT8 | rs3924508 | + | ||||
region_35 | TERT | rs2735940 | + | ||||
region_40 | CDX1 | rs2302275 | + | ||||
region_41 | ERGIC1 | rs472959 | + | ||||
region_42 | RREB1 | rs9379084 | + | ||||
region_43 | EDN1 | rs2070699 | + | ||||
region_43 | HIVEP1 | rs4714081 | + | + | |||
region_47 | CDKN1A | rs9470361 | + | ||||
region_48 | TFEB | rs6933790 | + | ||||
region_52 | DCBLD1 | rs6911915 | + | ||||
region_53 | TCF21 | rs151127921 | + | ||||
region_54 | GNA12 | rs1182197 | + | + | + | ||
region_55 | TBRG4 | rs67681615 | + | ||||
region_55 | TNS3 | rs6948177 | + | ||||
region_56 | ABHD11 | rs7806956 | + | + | |||
region_57 | TRIM4 | rs2527927 | + | + | |||
region_62 | POU5F1B | rs6983267 | + | ||||
region_64 | DCAF12 | rs11557154 | + | ||||
region_68 | BRD3 | rs11789898 | + | + | |||
region_70 | BAMBI | rs1773860 | + | ||||
region_71 | ASAH2B | rs10740013 | + | ||||
region_72 | ZMIZ1 | rs704017 | + | ||||
region_74 | ENTPD7 | rs35564340 | + | ||||
region_76 | TCF7L2 | rs4554812 | + | ||||
region_78 | TMEM258 | rs174570 | + | ||||
region_81 | TRPC6 | rs2186607 | + | ||||
region_82 | ARHGAP20 | rs3087967 | + | ||||
region_82 | FDX1 | rs3087967 | + | ||||
region_83 | BCL9L | rs497916 | + | ||||
region_85 | PLEKHG6 | rs10849434, rs1003563 | + | + | + | ||
region_88 | CERS5 | rs11169572 | + | ||||
region_88 | ATF1 | rs11169572 | + | + | |||
region_88 | DIP2B | rs11169572 | + | + | |||
region_89 | LRP1 | rs7398375 | + | + | + | ||
region_91 | TSPAN8 | rs11178634 | + | + | |||
region_98 | SMAD9 | rs12427846 | + | + | + | ||
region_99 | KLF5 | rs1304959, rs78341008 | + | ||||
region_102 | NIN | rs1042266 | + | ||||
region_102 | ABHD12B | rs1042266 | + | + | |||
region_102 | PYGL | rs1042266 | + | + | |||
region_103 | NID2 | rs1151580 | + | + | |||
region_104 | BMP4 | rs1957628, rs35107139 | + | + | |||
region_105 | DACT1 | rs8020436 | + | + | |||
region_108 | GREM1 | rs16970016 | + | ||||
region_109 | SMAD6 | rs3809570 | + | + | |||
region_109 | SMAD3 | rs56324967 | + | ||||
region_112 | ZFP90 | rs9924886 | + | ||||
region_112 | CDH1 | rs9924886 | + | + | + | ||
region_115 | NXN | rs11247566 | + | ||||
region_117 | SOX9 | rs112592783 | + | ||||
region_118 | METRNL | rs35204860 | + | + | |||
region_120 | SMAD7 | rs4939821, rs2337113 | + | + | |||
region_122 | FUT3 | rs10409772 | + | + | |||
region_124 | RHPN2 | rs28840750 | + | + | |||
region_126 | FUT2 | rs12460535 | + | + | |||
region_127 | TRIM28 | rs11670192 | + | ||||
region_127 | ZNF584 | rs8099852, rs11670192 | + | + | |||
region_128 | BMP2 | rs990999 | + | ||||
region_130 | MAP1LC3A | rs6059938 | + | ||||
region_130 | MYH7B | rs6059938 | + | ||||
region_131 | TOX2 | rs6073241 | + | + | |||
region_132 | PREX1 | rs6066825 | + | ||||
region_133 | PARD6B | rs6091213 | + | ||||
region_133 | PTPN1 | rs6091213 | + | ||||
region_135 | GNAS | rs8121252 | + | ||||
region_136 | RBBP8NL | rs1741640 | + | ||||
region_137 | STMN3 | rs6089763 | + | ||||
region_139 | ZNRF3 | rs4616575 | + | + | |||
region_140 | PDGFB | rs130651 | + | ||||
region_142 | RIBC2 | rs6007600 | + | + |
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.