HBB-HS-111 beta-globin hypersensitive site -111 [Homo sapiens (human)] - Gene

Summary

Gene symbol: HBB-HS-111
Gene description: beta-globin hypersensitive site -111
Gene type: biological region
Feature type(s): regulatory: DNase_I_hypersensitive_site
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HS-110; HS-111
Summary: This element represents a DNase I hypersensitive site located approximately 111 kb upstream of the HBE1 (hemoglobin, epsilon 1) gene in the beta-globin gene cluster. Chromosome conformation capture assays show that the orthologous mouse hypersensitive site is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with 3'HS1, which is located downstream of the beta-globin gene cluster, and this folding further enables interactions between the beta-globin locus control region (LCR) and active beta-globin gene promoters. [provided by RefSeq, Nov 2015]
Orthologs: mouse all
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Genomic context

Location:: 11p15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5380540..5381020)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5439810..5440290)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5401770..5402250)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

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General gene information

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NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.