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LOC127819679 H3K4me1 hESC enhancer GRCh37_chr10:131919446-131919946 [ Homo sapiens (human) ]

Gene ID: 127819679, updated on 12-Sep-2024

Summary

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Gene symbol
LOC127819679
Gene description
H3K4me1 hESC enhancer GRCh37_chr10:131919446-131919946
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 includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed 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 10:131919882 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC127819679 in Genome Data Viewer
Location:
chromosome: 10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (130121182..130121702)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (131050176..131050696)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (131919446..131919966)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131664970-131665634 Neighboring gene EBF transcription factor 3 Neighboring gene EBF3 antisense RNA 1 Neighboring gene VISTA enhancer hs232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131692870-131693478 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131694193-131695097 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131695098-131696001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131725181-131725712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131747356-131748190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131756502-131757174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131758519-131759190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131762665-131763636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131764672-131765292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131766535-131767154 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:131769017-131769636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131770277-131771162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131771163-131772046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131811814-131812654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131842637-131843136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131847250-131848134 Neighboring gene chromosome 10 open reading frame 143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131903776-131904291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4208 Neighboring gene uncharacterized LOC102724883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4209 Neighboring gene uncharacterized LOC124902560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131919947-131920447 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11122 Neighboring gene uncharacterized LOC105378561 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11124 Neighboring gene CTAGE family member 7, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131935765-131936400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131936401-131937035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4213 Neighboring gene peptidylprolyl isomerase A pseudogene 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131966412-131966912 Neighboring gene glutaredoxin 3 Neighboring gene uncharacterized LOC124902561

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_11120

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_121148.2 

    Range
    101..621
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    130121182..130121702
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    131050176..131050696
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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