Thirty-eight Hirschsprung disease (HSCR)–associated polymorphisms in six LD blocks, contained within 36 DNA elements at the RET locus annotated with respect to epigenetic marks (DNase I hypersensitivity [+a] in the SK-N-SH cell line, H3K4me1 [+b] marks in human fetal gut), luciferase reporter assays of alleles in the SK-N-SH cell line, allelic differences in luciferase assays in the SK-N-SH cell line, the TF binding the indicated regulatory element, and whether deletion of the element affected RET gene expression
