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    LOC122819145 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:119602243-119602892 and GRCh37_chr2:119602893-119603542 [ Homo sapiens (human) ]

    Gene ID: 122819145, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC122819145
    Gene description
    H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:119602243-119602892 and GRCh37_chr2:119602893-119603542
    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. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were validated as active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. An overlapping subregion was also validated as a functional 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 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Oct 2022]
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    Genomic context

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    See LOC122819145 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 (118844667..118845966)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119278027..119279326)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (119602809..119603103)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927709 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:119401495-119402281 Neighboring gene Sharpr-MPRA regulatory region 6388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11897 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119590580-119591348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119599819-119600399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119607811-119608363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119610971-119611506 Neighboring gene long intergenic non-protein coding RNA 1956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119615003-119615764 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119615765-119616526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119616527-119617286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11898 Neighboring gene engrailed homeobox 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:119671170-119672369 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:119711468-119712667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119746563-119747064 Neighboring gene uncharacterized LOC124906072 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:119749973-119751172 Neighboring gene macrophage receptor with collagenous structure Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:119807422-119808621 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:119843263-119843429 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:119868745-119869944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119870527-119871192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119891922-119892422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119892423-119892923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119914695-119915505 Neighboring gene complement C1q like 2

    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

    • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119602243-119602892
    • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119602893-119603542
    • Sharpr-MPRA regulatory region 9730

    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_077005.2 

      Range
      101..1400
      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
      118844667..118845966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      119278027..119279326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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