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LOC121967042 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1307318-1308085 [ Homo sapiens (human) ]

Gene ID: 121967042, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121967042
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1307318-1308085
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 a repressive element 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 Repressive DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121967042 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 (1371938..1372705)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (802487..803254)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1307318..1308085)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene dishevelled segment polarity protein 1 Neighboring gene microRNA 6808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1281421-1282299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1282501-1283130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1283131-1283760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 62 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 63 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 64 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1288877-1289508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1289509-1290140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1290141-1290771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1291896-1292448 Neighboring gene matrix remodeling associated 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1293036-1293618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 65 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 66 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 67 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1310373-1311278 Neighboring gene aurora kinase A interacting protein 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 8

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 3626

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_076182.2 

    Range
    101..868
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    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
    1371938..1372705
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    802487..803254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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