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LOC127269248 H3K4me1 hESC enhancer GRCh37_chr1:54181253-54181752 [ Homo sapiens (human) ]

Gene ID: 127269248, updated on 12-Sep-2024

Summary

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Gene symbol
LOC127269248
Gene description
H3K4me1 hESC enhancer GRCh37_chr1:54181253-54181752
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 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 1:54181672 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC127269248 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (53715580..53716083)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (53598433..53598936)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54181253..54181756)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53928578-53929106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53934837-53935376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53935377-53935914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53949500-53950120 Neighboring gene DMRT like family B with proline rich C-terminal 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53966190-53967030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53969230-53969793 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53972264-53972790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53972791-53973317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53992273-53992776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53993281-53993784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54005067-54006034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54006035-54007002 Neighboring gene GLIS family zinc finger 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54011803-54012302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54042179-54042808 Neighboring gene MPRA-validated peak234 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54082618-54082784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54086231-54086735 Neighboring gene Sharpr-MPRA regulatory region 11088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54150404-54151233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54151234-54152062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54159647-54160273 Neighboring gene RNA, U7 small nuclear 95 pseudogene Neighboring gene MPRA-validated peak235 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54204253-54204971 Neighboring gene uncharacterized LOC124904179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54236211-54236773 Neighboring gene small nucleolar RNA SNORA58 Neighboring gene NDC1 transmembrane nucleoporin

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. 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_8368

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_091109.2 

    Range
    101..604
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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
    53715580..53716083
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    53598433..53598936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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