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LOC121175354 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100181227-100181915 [ Homo sapiens (human) ]

Gene ID: 121175354, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121175354
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100181227-100181915
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 (MPRA) 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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 16:ElonW, transcriptional elongation, weaker H3K36me3) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 2:TssF, active promoter, flanking TSS/CpG islands). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 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 (100583604..100584292)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101823687..101824375)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100181369..100181663)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100168785-100169455 Neighboring gene insulin receptor substrate 3, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100172387-100172941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100172942-100173495 Neighboring gene Sin3A associated protein 25 Neighboring gene leucine rich repeats and calponin homology domain containing 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100182061-100182574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100182575-100183088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18447 Neighboring gene F-box protein 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100187581-100188381 Neighboring gene PCOLCE antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100201095-100201887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18449 Neighboring gene procollagen C-endopeptidase enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26376

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. 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

  • ATAC-STARR-seq lymphoblastoid active region 26374
  • Sharpr-MPRA regulatory region 8670

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_074286.2 

    Range
    101..789
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    100583604..100584292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101823687..101824375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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