Table 2.
Colocalization results of expression and methylation QTLs (eQTL and meQTL, respectively) with GWAS eye color SNPs, showing colocalized SNPs with a posterior probability ≥0.8
| Chromosome | Candidate SNP | Posterior probability | Regional probability | Posterior explained by SNP | Gene/Methylation annotation | QTL |
|---|---|---|---|---|---|---|
| 15 | rs12913832 | 0.9999 | 1 | 1 | OCA2 | eQTL |
| 15 | rs12913832 | 0.9864 | 0.9891 | 1 | AC090696.2 | eQTL |
| 15 | rs12913832 | 0.9991 | 0.9995 | 1 | HERC2 (Body) | OpenSea | meQTL |
| 15 | rs12913832 | 0.9855 | 0.9872 | 1 | HERC2 (Body) |S_Shelf | meQTL |
| 15 | rs12913832 | 0.9807 | 0.9831 | 1 | HERC2 (Body) |S_Shore | meQTL |
The methylation annotation indicates the location with respect to the nearest gene (TSS. = transcription start site), as well as the location of the tagged CpG marker within the CpG island.