Fig. 4

Cases of significant regulatory elements. Top rows show the genomic context with nearby gene and rows below show detailed views of the regulatory elements, PhyloP conservation scores, and SNVs. SNV annotations and color scheme as in Fig. 3. a Mutations in the significant upstream promoter element of PCF11. b Mutations in significant intronic elements of TOX3. The three elements achieve similar combined significance after multiple testing correction. c Mutations in the significant CTCF TFBS element upstream of MAPRE3. The CTCF sequence logo and nucleotide sequence of the region is shown