Extended Data Fig. 8: Roulette performance at different DNA regions, as annotated by ENCODE.

Observed to expected ratio of rare SNVs at different ENCODE annotations. PLS stands for promoters, ELS for enhancers, pPLS and pELS are proximal promoters/enhancers (less than 2 KB from transcription start site), dPLS and dELS (more than 2 KB from transcription start site), DNAse-H3K4me3 are sites that are both hypersensitive to DNase and have signal of H3K4me3, CTCF stands for binding sites of CTCF, multiple labels corresponding to overlapping annotations.