Fig. 4

Enrichment of genetic variants associated with cell-type-specific gene expression and diseases in hub enhancers in K562 cells. a–c Enrichment of the eQTLs curated in GTEx in the enhancers in three groups, using randomly selected genomic regions as control (see Methods). The GTEx eQTL identified in all tissues (a) were separated into two subsets, identified in whole blood (b) or other tissues (c). The number of enhancers overlap with eQTLs in each group was labelled on each bar. P values were calculated using Fisher’s exact test. *P < 0.05; **P < 0.01; ***P < 0.001, n.s. not significant. d–f Enrichment of the disease or traits-associated SNPs curated in GWAS catalog in the enhancers in three groups, using randomly selected genomic regions as control. The GWAS SNPs associated all diseases/traits (d), were separated into two subsets, associated with blood-related diseases/traits (e) or other traits (f). The number of enhancers overlap with SNPs in each group was labelled on each bar. P values were calculated using Fisher’s exact test. *P < 0.05; **P < 0.01; ***P < 0.001, n.s. not significant. g–i Enrichment of GWAS SNPs in hub and non-hub enhancers, which were defined based on chromatin interactions after filtering a specific subtype of chromatin interactions, enhancer-CTCF (g), enhancer-enhancer (h) or enhancer-promoter (i). The fold-change between hub and non-hub enhancers were labelled