Table 1.
Significant moloc colocalization results for AMD GWAS, retina eQTL and mQTL
| CpG | CpG genic location | Distance between CpG and its corresponding target gene TSS (bp) | Target genea | chr | SNP | Variant position (hg38) | GWAS locusb |
|---|---|---|---|---|---|---|---|
| cg22670819 | 1stExon | −18964 | DXO | chr6 | rs114820183 | 31933131 | C2/CFB/SKIV2L |
| cg00854166 | Body | 619452 | AP4M1 | chr7 | rs34130487 | 100161582 | PILRB/PILRA |
| cg14736458 | - | −103608 | AP4M1 | chr7 | rs34130487 | 100161582 | PILRB/PILRA |
| cg04039547 | TSS200 | 47175 | AP4M1 | chr7 | rs34130487 | 100161582 | PILRB/PILRA |
| cg00472528 | - | 932958 | KMT5A | chr12 | rs34477554 | 123405486 | - |
| cg19881011 | TSS1500 | −40151 | MTMR10 | chr15 | rs6493454 | 31101742 | - |
| cg21565421 | Body | −589718 | MPI | chr15 | rs11072507 | 74762525 | - |
| cg11955166 | - | −1029954 | EHD4 | chr15 | rs72735670 | 40922983 | - |
| cg13906792 | TSS1500 | 17427 | MPI | chr15 | rs11072507 | 74762525 | - |
| cg16646645 | TSS1500 | −39953 | MTMR10 | chr15 | rs6493454 | 31101742 | - |
| cg14323928 | 5’UTR | −41329 | MTMR10 | chr15 | rs6493454 | 31101742 | - |
| cg21851553 | TSS200 | −41153 | MTMR10 | chr15 | rs6493454 | 31101742 | - |
| cg23999607 | Body | 299453 | CPLX4 | chr18 | rs4940875 | 59463337 | - |
| cg03536881 | TSS200 | −394519 | KASH5 | chr19 | rs2098709 | 48684412 | - |
| cg05475770 | Body | −441931 | TMEM259 | chr19 | rs67538026 | 1031439 | CNN2 |
| cg00752531 | Body | −442683 | TMEM259 | chr19 | rs67538026 | 1031439 | CNN2 |
| cg09935308 | Body | −679262 | TMEM259 | chr19 | rs113772652 | 1031551 | CNN2 |
| cg03641251 | Body | −363452 | SNX21 | chr20 | rs4810499 | 46340784 | - |
aTarget gene inferred from colocalizing eQTL.
bNearest gene/s to lead GWAS variant. TSS, transcription start site.