Fig. 5
From: Diverse functions associate with non-coding polymorphisms shared between humans and chimpanzees
Illustrative examples of non-immune functions associated with cbSPs. A LD SNPs in ctSP locus on 3q24 is associated with cognitive performance and risky behavior. Regional association plot showing statistically significant genome- and phenome-wide associations (threshold p ≤ 1E−08), regulatory and eQTLs. This locus is characterized by neurological traits involved in educational attainment, cognitive performance, and risky behavior (automobile speeding propensity). Both ctSPs in this region (rs9869178, rs2118072) are eQTL in the gene DIPK2A (C3orf58). LD SNPs are found in enhancer and promoter flanking regions. B SNPs in high LD with cbSPs in 8q21.11 are associated with uric acid and urate levels. Regional association plot showing statistically significant genome- and phenome-wide associations (P ≤ 1E−08), eQTL, and regulatory (open chromatin, CTCF binding site) SNPs. LD SNPs in this region are associated with urate (rs2941484, rs2943539) and uric acid (rs2977944, rs2941484) levels, and pancreatic cancer (rs2941471, p = 7E−10). C A cbSP in 16p12.3 is associated with alcohol intake frequency and comparative body size at age 10. The regional association plot shows statistically significant genome- and phenome-wide associations (threshold p ≤ 1E−08), and eQTLs from GTEx. One of the cbSPs (rs57790054, yellow) is associated with alcohol intake in the UK Biobank. A variant in high LD (rs72771074, green) has been associated with alcohol use disorder in a previous GWAS. The cbSP is also strongly associated with insomnia (5e-11). The cbSPs are nearby GPR139, a gene encoding a G-protein coupled receptor expressed in the brain, whose expression levels influence alcohol drinking behavior in rats. Figures created with LocusZoom [40]