Extended Data Fig. 10: GWAS association.
From: Population-level variation in enhancer expression identifies disease mechanisms in the human brain
a, Stratified LD score regression of neuronal and non-neuronal enhancer/gene eQTL across different classes of traits. The gene/enhancer eQTLs are assigned to Neuronal and non-Neuronal groups based on the differential expression status between the two cell types. A positive coefficient signifies enrichment in heritability (per base enrichment, mean ± standard error).’·’: Nominally significant (P < 0.05);’+’: significant after FDR (Benjamini & Hochberg) correction (FDR < 0.05). b, Gene TWAS Z scores compared to published reports52,53. SCC represents the Spearman correlation coefficient (ρ) (all P < 10−16, two-sided Spearman correlation test). c, For different types of transcripts, the TWAS Z scores between the two brain regions. SCC represents the Spearman correlation coefficient (ρ)(all P < 10−16, two-sided Spearman correlation test). d, Aligned Manhattan plots of SCZ GWAS and EeQTLs at the enh41216 locus generated by LocusCompare. SNPs are colored by LD (r2) with the lead EeQTL (rs3247233).
