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LOC113748410 H3K4me1 hESC enhancer GRCh37_chr7:73476445-73476945 [ Homo sapiens (human) ]

Gene ID: 113748410, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113748410
Gene description
H3K4me1 hESC enhancer GRCh37_chr7:73476445-73476945
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 H3K4me1 histone modification. 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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 20:ReprD, Polycomb repression with Duke DNase/promoter and conservation enriched). An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in K562 cells. [provided by RefSeq, Jun 2023]
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Genomic context

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See LOC113748410 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74062115..74062615)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75265244..75265744)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73476489..73476783)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73270039-73270538 Neighboring gene methyltransferase like 27 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73284301-73285230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73285703-73286258 Neighboring gene transmembrane protein 270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73313687-73314360 Neighboring gene Sharpr-MPRA regulatory region 8209 Neighboring gene Sharpr-MPRA regulatory region 9451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73414582-73415082 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:73417073-73418272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73440914-73441886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73442859-73443830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73447495-73448122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73448123-73448750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73465984-73466807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73475944-73476444 Neighboring gene elastin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73497513-73498191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73496834-73497512 Neighboring gene ELN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73499459-73500058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73500059-73500656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73504464-73504964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73504965-73505465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73507121-73507662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73508745-73509285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73519804-73520304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73529551-73530186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73530187-73530821 Neighboring gene LIM domain kinase 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73547393-73548180 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73553155-73553684 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:73576750-73576945 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73588725-73589238 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73589239-73589751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73593778-73594278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73594279-73594779 Neighboring gene eukaryotic translation initiation factor 4H Neighboring gene microRNA 590

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. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  2. Systematic identification of silencers in human cells. Pang B, et al. Nat Genet, 2020 Mar. PMID 32094911, Free PMC Article
  3. 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
  4. 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

  • ReSE screen-validated silencer GRCh37_chr7:73476586-73476778
  • Sharpr-MPRA regulatory region 6518

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_062521.2 

    Range
    101..601
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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
    74062115..74062615
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    75265244..75265744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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