About Enhancer

Enhancer ID: E_01_401
Enhancer symbol: HS2 enhancer
Species: Human
Position : chr11:5286080-5288080
Biosample name: K-562
Experiment class : Low throughput
Enhancer type: enhancer
Disease: --
DO: --
Mesh: --
Distance from TSS: >2kb
Pubmed ID:  14585970
Enhancer experiment: DNase I Hypersensitivity Assay,RT-PCR,ChIP
Enhancer experiment description: To investigate the chromatin anatomy of a more complete enhancer-gene locus, we created minichromosomes linking ε-globin to a longer 1.46-kb KpnI-to-BglII LCR HS2 enhancer fragment. Formation of HS2 and the ε-globin promoter DNase I hypersensitive site are enhancer dependent.We compared the transcriptionally active locus to one in which HS2 was inactivated by mutations in the core NF-E2 sites. In contrast to inactive templates, nucleosomes were mobilized in discrete areas of the active locus, including the HS2 core and the proximal promoter.

About Target gene

Target gene : HBE1(HBE)
Strong evidence: --
Less strong evidence: DNase I Hypersensitivity Assay
Target gene experiment description: We studied nucleosome remodeling and covalent histone modification mediated by theε-globin locus control region HS2 enhancer at nucleosome-level resolution throughout a 5.5-kb globin gene model locus in vivo in K562 cells.We compared the transcriptionally active locus to one in which HS2 was inactivated by mutations in the core NF-E2 sites. In contrast to inactive templates, nucleosomes were mobilized in discrete areas of the active locus, including the HS2 core and the proximal promoter. Large differences in restriction enzyme accessibility between the active and inactive templates were limited to the regions of nucleosome mobilization, which subsumed the DNase I hypersensitive sites.

About TF

TF name : NFE2(NF-E2,p45)
TF experiment: RNase Protection Assay
TF experiment description: To investigate the effect on transcription activation of the NF-E2 mutation in the context of an extended HS2, we performed RNase protection assays on RNA isolated from clones with the wild-type (HS2Lε) or mutated [HS2L(mut)ε] enhancer.A representative experiment is de_x0002_picted in Fig. 2A, and the results of multiple determinations for six different clones of HS2Lε and HS2L(mut)ε are summa_x0002_rized in Fig. 2B. Abundant transcription of ε-globin RNA is seen when the gene is linked to the longer 1.46-kb HS2 se_x0002_quence (HS2Lε). Destruction of the tandem NF-E2 binding sites in HS2 abolished transcription of the ε-globin gene [HS2L(mut)ε].

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:
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About SNP

SNP ID: --
SNP position: --
SNP experiment: --

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs