Fig. 2: Uterine fibroid GWAS risk loci are variable in size and the number of target genes that are differentially expressed in uterine fibroid tumors.

a Horizontal bar graphs show genomic loci, size, number of SNPs, number of mapped genes, and number of genes in each of the 24 UF GWAS risk loci. b Horizontal bar graphs show the relative intensity of H3K27ac ChIP-Seq signal intensity and Hi-C chromatin contact frequency in primary uterine fibroid tumors and matched MyoF tissue samples. c The horizontal bar plots indicate the number of pQTL-associated variants that are proximal to each locus. The names of each pQTL protein are indicated. d The heatmaps show the number of differentially regulated genes between leiomyoma and MyoF in two independent bulk RNA-Seq datasets. e The Venn diagram shows the number of FUMA-identified target genes that are common between the differentially expressed genes from the indicated independent data sets. f The diagrams show the FUMA-identified genes that are upregulated (n = 87) or downregulated (n = 81) in leiomyoma in at least one dataset. g The upset plot shows the common set of UF risk loci across three different GWAS studies. The lead SNP from Gallagher et al. is indicated for the common risk loci. For the Fig. 2b, two-sided student t test was performed.