Fig. 5

Enrichment of all local meQTLs in broad genomic annotation categories. The x-axis is the odds ratio for enrichment and 99 % confidence intervals (CI) are provided for all data points. We show enrichment in both our primary sample (main analysis) and in the replication sample. In all instances, significance was calculated based on more than four million permutations. Annotation categories are as follows: (1) GWAS catalog represents hits from the National Human Genome Research Institute (NHGRI) GWAS catalog; (2) CpG islands; (3) exons; (4) CpG shores, defined as 2 kb flanking a CpG island; (5) G-quadruplexes; (6) narrow promoter region 2 kb upstream from transcription start; (7) conserved across 29 eutherian mammals; (8) broad promoter region 8 kb upstream from transcription start; (9) conserved transcription factor (TF) recognition sequences; (10) RefSeq genes; (11) ENCODE transcription factor binding data from chromatin immunoprecipitation sequencing (ChIP-seq) experiments; (12) DNaseI hypersensitive regions; (13) introns; (14) repetitive elements; (15) long non-coding RNAs; (16) known imprinted genes; (17) VISTA enhancers; and (18) microRNA genes