Fig. 5.

Combinatorial risk noncoding mutations. a Number of genes that are targeted by different numbers of eSNP-containing enhancers. A considerable fraction of genes are targeted by multiple enhancers, suggesting combinatorial regulation of affected genes by multiple risk eSNPs. b Percentage of causal eSNP pairs that target the same gene and increase disease risk when considered together. Genes targeted by multiple risk eSNPs have higher values of network topological features (c), higher expression fold changes between case and control samples (d), higher overlap with eQTLs (e), and more enriched GO terms for immune responses (highlighted in orange) (f). g Odds ratio for all individuals homozygous at the eSNP r2706356 and odds ratios determined when homozygous individuals were stratified based on the genotype of the co-targeting eSNP (rs4143335), as compared to the expected distribution of odds ratios