Fig. 5. Locations of GWAS-significant loci and the putative causal variant at the SNP 1 locus.

a, b Regional Manhattan plots are centered on the GWAS-significant variants, SNP 1 (a) and SNP 2 (b), which are labeled on top by number (see Fig. 3a and Table 3) and shaded purple. Other variants within region are colored by LD value (r²) in relation to the significant SNP. Genes are shown below as green arrows and labeled by gene symbol. c The putative causal variant linked to SNP 1 in a is shaded orange and located within a vertebrate conserved element, shaded gray, upstream of the transcriptional start site (TSS) of FAM204A, shaded blue. In silico analysis predicts the variant to disrupt position 15 of the NFYB motif, shown below. d Alignment of the 13-lined ground squirrel reference sequence to homologous sequences of other mammals, including hibernators or mammals capable of heterothermy, indicated in bold. The position of the SNP 1 putative causal variant (G > A) in c is in bold while sequence from positions 8–15 of the NFYB motif is underlined.