This region represents a conserved enhancer element located in a 5\' intron of the runt related transcription factor 1 (RUNX1) gene. The corresponding sequence in mouse drives expression of Runx1 in the hemetopoietic cell lineage. A sub-region of the human element was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. This sub-region contains a conserved motif for a GATA activator, and mutation of the motif results in reduced enhancer activity. This genomic region was shown to have physical interactions with both the RUNX1 P1 and P2 promoters as well as a conserved sequence in intron 5. [provided by RefSeq, Nov 2017]
