Fig. 3
Functional annotation and heritability enrichment of epilepsy GWAS results. a functional categories of all genome-wide significant SNPs in all phenotypes. b Minimum (most active) chromatin state across 127 tissues for all genome-wide significant SNP in all phenotypes; TSS - transcription start site. c The RegulomeDB score for all genome-wide significant SNPs in all phenotypes, where 7 represents no evidence for affecting regulation and lower scores represent increasing evidence; NA - the variant does not exist in RegulomeDB. d Heritability enrichment for genetic generalized epilepsy with 6 different chromatin markers in 88 tissues, calculated with stratified LD-score regression using data from the Roadmap Epigenomics Project. The main bar chart represent the 10 tissues with the strongest heritability enrichment and the inset shows the full distribution of all chromatin markers in all tissues. e Heritability enrichment of genes expressed in 53 tissues, calculated with stratified LD-score regression using data from the gene-tissue expression (GTEx) Consortium
