Skip to main content
Fig. 1 | Genome Biology

Fig. 1

From: Selected heterozygosity at cis-regulatory sequences increases the expression homogeneity of a cell population in humans

Fig. 1

Identification of balanced SNPs and their enrichment in cell type-specific DNase hypersensitive sites (DHSs) and transcription factor (TF) binding sites. a Our data processing workflow for the identification of cis-regulatory SNPs that have potentially been under balancing selection. AFR African, ASN Asian, EUR European, HWE Hardy–Weinberg equilibrium , LD linkage disequilibrium. b Enrichment of the balanced SNPs in the DHSs of 125 cell types. Among them, only the cell types in the top half are displayed. An enrichment score reflects the degree to which a set of SNPs is overrepresented in a specific cell type. Immune cells and epithelial cells are highlighted in red and blue, respectively. The dashed line indicates the mean level of enrichment across the 125 cell types. c Enrichment of the balanced SNPs in the binding regions of 161 different TFs. The dot size is proportional to the degree of enrichment. The dashed line corresponds to the mean value

Back to article page