based on gene expression in GTEx127 or BIOS79. Expression quantitative trait loci were annotated using FUMA (see URLs). We restricted to eQTL associations with false discovery fate (FDR) < 1e-3 within each dataset. (e) Chromatin states of each variant based on the 15-state chromHMM analysis of epigenomics data from Roadmap128. The 15 states summarize to annotations of active chromatin marks (i.e. Active TSS, Flanking Active TSS, Flanking Transcription, Strong Transcription, Weak Transcription, Genic Enhancer, Enhancer, or Zinc Finger [ZNF] gene), repressed chromatin marks (Heterochromatin, Bivalent TSS, Flanking Bivalent TSS, Bivalent Enhancer, Repressed Polycomb, or Weak Repressed Polycomb), or quiescent. The most common chromatin state across 127 tissue/cell types was annotated using FUMA (see URLs). We also evalauted the annotated chromatin state from fetal brain.
