Fig. 4

Regions of epigenetic supersimilarity (ESS) and systemic interindividual variation (SIV) share genomic and epigenomic features. a Normalized DZ MSE vs. MZ MSE for the 6968 probes with range > 0.4, of which 489 (red) show substantial mQTL. Inset: ESS probes are 15-fold enriched for substantial mQTL (P < 10^–10, chi-squared test). b Tissue-specific vs. interindividual variation at 344,151 probes, of which 2702 (red) are substantial mQTL. Inset: SIV probes are 24-fold enriched for substantial mQTL (P < 10^–10, chi-squared test). c After filtering out substantial mQTL, ESS and SIV hits overlap more than two-thirds of probes at previously identified MEs [13]. d Relative to all probes in the top 10% of interindividual variance, ESS and SIV probe sets are enriched for CpG islands (both comparisons P < 10^–10, chi-squared test). e Gene set enrichment analysis shows that both ESS and SIV probes are enriched for genes expressed in cancer (P = 4.7 × 10^–8 and 4.8 × 10^–9, respectively). Each row represents a different type of cancer in The Cancer Genome Atlas [24] (key to abbreviations in Additional file 2: Table S5). f Association of probe sets with epigenomic feature annotations derived from 111 reference epigenomes [25]. ESS and SIV probes are enriched for active promoters (TssA) and underrepresented at enhancers (Enh) (all four comparisons P < 10^–10)