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LOC121056758 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1004971-1005615 [ Homo sapiens (human) ]

Gene ID: 121056758, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121056758
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1004971-1005615
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 is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 4:PromP, inactive/poised promoter, highly conserved). The same subregion also displayed repressive activity by Sharpr-MPRA in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 4:PromP). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121056758 in Genome Data Viewer
Location:
5p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1004856..1005500)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (910477..911121)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1005089..1005383)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:991246-991960 Neighboring gene long intergenic non-protein coding RNA 2982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:994888-995388 Neighboring gene uncharacterized LOC124900932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1004327-1004970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1005616-1006259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1007413-1008178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1008179-1008944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1017054-1017554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1018687-1019370 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1022097-1022758 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:1024745-1025404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1025625-1026127 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1026128-1026629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1026630-1027132 Neighboring gene NKD inhibitor of WNT signaling pathway 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1028355-1028856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1038746-1039520 Neighboring gene solute carrier family 12 member 7 Neighboring gene microRNA 4635

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 4144

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_074148.2 

    Range
    101..745
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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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    1004856..1005500
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187548.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    23363..24007
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    910477..911121
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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