Fig. 1

Genomic characterization of fetal brain cis-eQTL. a Plot of eQTL density (FDR < 0.05) versus distance from transcription start site for all eTranscripts. Expression QTLs mapping to a common 900-kb inversion on chromosome 17q21 were excluded from this analysis due to extensive linkage disequilibrium across the inversion. b Enrichment of eTranscript eQTL within genomic features identified by the ENCODE [8] and Roadmap Epigenomics Consortium [9] projects in six human cell lines. Enrichments are expressed as the natural log of odds ratios, with error bars representing 95% confidence intervals. GM12878 = lymphoblastoid cell line; H1HESC = embryonic stem cell line; HeLa-S3 = cervix adenocarcinoma cell line; HepG2 liver carcinoma cell line; HUVEC = umbilical vein endothelial cells; K562 = myeloid leukemia cell line. Fetal brain eQTL are significantly enriched in regions annotated as TSS, flanking promoter, enhancer, weak enhancer, and CTCF binding sites, but significantly depleted in repressed genomic regions