Fig. 2

Schizophrenia heritability is enriched for brain-specific accessible chromatin. a Schizophrenia heritability enrichment (standard error) and significance level (–log 10(P)) of different functional genomic annotations estimated using partitioned LD score regression. Enrichment of ATAC-seq regions in DLPFC is second only to genomic regions conserved across 29 Eutherian mammals. The black bar represents the 5% false discovery rate threshold. b Enrichment across a subset of 142 DNase-seq and ATAC-seq datasets (see Supplementary Fig. 9 for complete comparison). The black bar represents the Bonferroni significance threshold (=0.01/142). Top enrichments are in DLPFC ATAC-seq peaks generated from Duke and U Chicago groups, followed by other mostly brain-specific tissues and cell lines. ATAC-seq tissue samples (cerebellum, liver, muscle, heart, kidney, and lung) represent an independent study to control for batch and method effects. c Schizophrenia heritability enrichment and standard error for peaks of different width. d Heritability enrichment of ATAC-seq peaks from brain display significant enrichment (*P < 0.05) for GWA variants associated with schizophrenia, but not for educational attainment (Edu), cognitive ability (Cog), height, and total cholesterol (TC). e Heritability enrichment of evolutionarily conserved regions are significantly enriched for schizophrenia, educational attainment, cognitive ability and height, and TC. f Heritability is ~4× more enriched for regions that overlap between ATAC-seq and conservation than for regions that are either conserved or in ATAC-seq peaks