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Gene : 108491823 Homo sapiens

Description  This genomic region is located in an intron of the CTTNBP2 (cortactin binding protein 2) gene on chromosome 7, and is also located approximately 48 kb from the 3' end of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. It was identified as a putative enhancer-blocking chromatin insulator based on CTCF association and DNase I hypersensitivity in multiple cell types by ChIP-seq and genome-wide chromatin accessibility assays. A DNase I hypersensitive site, DHS+48.9kb, was also detected by the DNase-chip procedure. This region was validated as a functional enhancer-blocking element based on its ability to block activation of a gamma-globin promoter by the beta-globin HS2 enhancer when positioned between the enhancer and promoter in a lentiviral reporter assay in K562 erythroleukemia cells. This region has also been shown to associate with Rad21, a cohesin complex subunit that is known to interact with CTCF, and it can form looping interactions with the CFTR promoter and the -80.1 kb and -20.9 kb CFTR regulatory elements. [provided by RefSeq, Oct 2018]
  • identifiers:
  • 108491823

Genome feature

Region: gene ?
Location: No location information in HumanMine


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