Enrichment analysis of disease variants wihtin regulatory regions. (A) Enrichment analysis of disease vairants to human genomic variants. Compared with human genomic variant background (control group), the natural logorithm of odds ratio of disease variants to control group was calculated. The error bar means standard error. Overall, diseaase variants are enriched within regulatory regions. Moreover, different types of disease variants show distinctive propensity for particular regulatory elements. Transcription promoter are the most enriched regulatory regions for Mendelian disease variants and recurrent cancer somatic mutations. Cancer predisposing germline variants are over ten times enriched within histon modification regions and chromatin physical interaction regions. Complex disease variants show quite even enrichment distribution within various regulatory regions. (B) Enrichment analysis of noncoding disease variants to human genomic noncoding SNPs. Disease variants and noncoding disease variants show similar enrichment pattern within various regulatory regions. Recurrent cancer somatic noncoding variants and Mendelian disease noncoding variants are most enriched within transcription promoter. Cancer predisposing germline noncoding variants are most enriched within chromatin physicial interaction regions. Complex disease noncoding variants are with quite even enrichment wihtin different regulatory regions.