rs12913832
rs12913832 is a regulatory variant in intron 86 of HERC2, located about 21 kb upstream of the pigmentation gene OCA2, where it functions as a long-range enhancer that loops to contact the OCA2 promoter via transcription factors including HLTF, LEF1, and MITF. The G allele disrupts this enhancer activity and reduces OCA2 transcription and melanin production in the iris, producing blue eyes, while the A allele permits normal OCA2 expression and brown eyes; this variant is the single largest determinant of human eye color. It is used in this dataset as the primary marker for eye color and broader pigmentation.
Traits rs12913832 reads
Gene
Reference databases
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