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Table 7 HaploReg v4.1 bioinformatics database search of NRG1 p.V133 L

From: NRG1 variant effects in patients with Hirschsprung disease

Variant Histone H3K4me1 (Enhancer) Histone H3K4me3 (Promoter) Histone H3K9ac (Promoter) Motifs Change
c.397G > C (p.V133 L) Gastric Duodenum Smooth Muscle, Colon Smooth Muscle, Stomach Smooth Muscle, Fetal Stomach, Fetal Intestine Small, Fetal Intestine Large Stomach Mucosa AP-4_2, BDP1_disc3, Egr-1_known1, Egr-1_known4, HEN1_2