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LOC127825695 H3K4me1 hESC enhancer GRCh37_chr12:130677479-130677979 [ Homo sapiens (human) ]

Gene ID: 127825695, updated on 12-Sep-2024

Summary

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Gene symbol
LOC127825695
Gene description
H3K4me1 hESC enhancer GRCh37_chr12:130677479-130677979
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 region was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. This locus also includes a subregion containing a Neanderthal adaptively introgressed genetic variant. That subregion was validated as an enhancer by MPRAs in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 12:130677846 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC127825695 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (130192934..130193434)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (130230074..130230574)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (130677479..130677979)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene FZD10 antisense divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:130645489-130646055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:130646056-130646622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:130648209-130649204 Neighboring gene NANOG hESC enhancer GRCh37_chr12:130649290-130649835 Neighboring gene frizzled class receptor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130667832-130668510 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25764 Neighboring gene Sharpr-MPRA regulatory region 11699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130682728-130683228 Neighboring gene ribosomal protein S20 pseudogene 30 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25789 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25816 Neighboring gene uncharacterized LOC107984480

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. Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells. Jagoda E, et al. Mol Biol Evol, 2022 Jan 7. PMID 34662402, 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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • Neanderthal introgressed variant-containing enhancer experimental_25769

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_127207.1 

    Range
    101..601
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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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    130192934..130193434
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    130230074..130230574
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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