Fig. 5

Enrichment of annotated regulatory features. a Odds ratios (ORs) for significantly enriched regulatory features (overall set) between suggested causal deletion candidates and other deletion candidates. The largest effect was seen for Ensembl promoters (OR = 9.35) while chromatin states such as heterochromatin showed a negative enrichment effect (OR = 0.45). b ORs for significantly enriched GM12878-specific regulatory features between suggested causal deletion candidates and other deletion candidates. The largest effect was seen for the super-enhancers (OR = 4.97), with the active promoter predicted chromatin state also showing large effect (OR = 4.94). Negative enrichment effect was seen for the heterochromatin state (OR = 0.42)