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LOC121725012 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36644415-36645060 [ Homo sapiens (human) ]

Gene ID: 121725012, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121725012
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36644415-36645060
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 in naive 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 HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 16:ElonW, transcriptional elongation, weaker H3K36me3). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121725012 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (36178814..36179459)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (36041689..36042334)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36644415..36645060)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36563075-36563583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 654 Neighboring gene collagen type VIII alpha 2 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36579590-36580530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36580531-36581471 Neighboring gene MPRA-validated peak176 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36614757-36615417 Neighboring gene trafficking protein particle complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36625977-36626754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 746 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:36638149-36639348 Neighboring gene MAP7 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36643121-36643768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36643769-36644414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36653458-36654156 Neighboring gene RNA, 7SL, cytoplasmic 131, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36680691-36680811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 747 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36689434-36689961 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36689962-36690490 Neighboring gene thyroid hormone receptor associated protein 3 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 4

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 618

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_075482.2 

    Range
    101..746
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    36178814..36179459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    36041689..36042334
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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