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LOC122861256 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179075951-179076528 [ Homo sapiens (human) ]

Gene ID: 122861256, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122861256
Gene description
NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179075951-179076528
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 primed human embryonic stem cells, where it associates with the NANOG transcription factor and 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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC122861256 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178211224..178211801)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178694003..178694580)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179076129..179076423)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16801 Neighboring gene RNA binding motif protein 45 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179018955-179019456 Neighboring gene RNA, U5E small nuclear 9, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12148 Neighboring gene Sharpr-MPRA regulatory region 8011 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179076529-179077106 Neighboring gene oxysterol binding protein like 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179142162-179142662 Neighboring gene Sharpr-MPRA regulatory region 7285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179217195-179217695 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:179228225-179228383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16802 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179278150-179278725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179279303-179279877 Neighboring gene cholesterol induced regulator of metabolism RNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179315058-179315632 Neighboring gene protein activator of interferon induced protein kinase EIF2AK2 Neighboring gene nuclear distribution C pseudogene 2 Neighboring gene pejvakin

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 9723

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_077072.2 

    Range
    101..678
    Download
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    178211224..178211801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    178694003..178694580
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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