Figure 1.

Archaic Haplotypes Associated with Skin and Hair Phenotypes

(A–D) Neanderthal allele frequency in percentage (x axis) and the number of individuals in the UK Biobank cohort for four aSNPs that show strong associations with skin and hair phenotypes (y axis): chr9: 16,904,635 (rs62543578) associated with skin color (A), chr9: 16,804,167 (rs10962612) associated with ease of skin tanning (B) and incidence of childhood sunburn (C) (illustrated are the average numbers of childhood sunburns for individuals with the three genotypes), and chr16: 89,947,203 (rs62052168) associated with hair color (D).

(E and F) The genomic locations of introgressed haplotypes for the aSNPs showing significant associations in (A)–(D). Gray vertical lines denote the extent of the inferred archaic haplotypes on chromosomes 9 (E) and 16 (F). At the top, we show all aSNPs that are within the inferred archaic haplotypes and are present in any 1000 Genomes individual. The associated tag SNPs directly genotyped by the UK Biobank are marked in red, and other aSNPs within the archaic haplotypes and genotyped in the UK Biobank are marked in orange. The associated tag aSNPs represented in (A)–(D) are marked on the x axis.