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LOC123956275 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:155000525-155001034 [ Homo sapiens (human) ]

Gene ID: 123956275, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123956275
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:155000525-155001034
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (155208815..155209324)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (156384379..156384888)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (155000669..155000963)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 280 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:154977681-154977935 Neighboring gene uncharacterized LOC124901782 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:154989644-154990843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26894 Neighboring gene uncharacterized LOC124901783 Neighboring gene uncharacterized LOC124901786 Neighboring gene uncharacterized LOC124901784 Neighboring gene Sharpr-MPRA regulatory region 4112 Neighboring gene uncharacterized LOC124901785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:155016451-155016952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:155016953-155017452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:155017611-155018524 Neighboring gene uncharacterized LOC124901787

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • Sharpr-MPRA regulatory region 14434

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.

Genomic

  1. NG_078466.2 

    Range
    101..610
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    155208815..155209324
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    156384379..156384888
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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