Particular enriched regulatory regions for four type of disease variants. For each type of disease variants, we generated 1000 equal size control groups according to the allele frequency distribution of disease variants, then calculated the odds ratio of disease variants to 1000 control groups respectively. Boxplots for (A) Mendelian disease variants, (B) cancer predisposing germline variants, (C) recurrent cancer somatic mutations and (D) complex disease variants. Transccription promoter are most enriched regulatory regions for Mendelian disease variants and recurrent cancer somatic variants. Cancer predisposing germline variants show high enrichemnt within histone modification regions, chromatin physical interaction regions and transcription promoter. No significant particular enriched regulatory regions for complex disease variants.