Fig. 2
Islet enhancer regulation of distal target gene expression. a Enhancers looped to gene promoters on average over a 165 kb distance, including >10% over 500 kb. b Distal islet enhancers formed chromatin loops with the MAFB promoter, including two over 1 MB. c Genes with increasing numbers of chromatin loops with islet enhancers had increased expression level in islets, with the highest expression among genes with six or more looped enhancers. d Genes with increasing numbers of chromatin loops with islet enhancers in had increased relative expression level in islets Z-score normalized across 53 GTEx tissues. e The number of chromatin loops with islet enhancers was a significant predictor of relative islet gene expression compared to relative gene expression in 53 other tissues in GTEx. Values represent effect size and SE from the linear model. **P < 0.0001. f Gene expression QTL P-values for genetic variants in gene promoters (TssA; red), enhancers proximal to gene promoters (Enh. proximal; pink), enhancers in chromatin loops to the gene promoter (Enh. loop; dark blue), and enhancers not in chromatin loops to the gene promoter for both all enhancers (Enh. no-loop; light blue) and enhancers distance-matched with looped genes (Enh. no-loop matched; gray). Variants in enhancer elements had stronger evidence for islet expression QTLs with genes in loops than genes with no loop, even when matched based on distance. Wilcox test *P < 0.05, **P < 0.0001. Boxplots show the median, and third and first quartiles. Source data are provided as a source data file
