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LOC110121228 VISTA enhancer hs1941 [ Homo sapiens (human) ]

Gene ID: 110121228, updated on 17-Sep-2024

Summary

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Gene symbol
LOC110121228
Gene description
VISTA enhancer hs1941
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 locus represents a conserved genomic element that can function as an enhancer. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in transgenic mice embryos. A subregion marked by the H3K4me1 histone modification was also shown to be an active enhancer by ChIP-STARR-seq in primed human embryonic stem cells. [provided by RefSeq, Nov 2022]
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Genomic context

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See LOC110121228 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (119487057..119491464)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119920563..119924970)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (120244633..120249040)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16451 Neighboring gene diazepam binding inhibitor, acyl-CoA binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120189865-120190371 Neighboring gene transmembrane protein 37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120231245-120231796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120232347-120232897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120238515-120239026 Neighboring gene secretin receptor Neighboring gene SCTR antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11908 Neighboring gene cilia and flagella associated protein 221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11909 Neighboring gene MPRA-validated peak3833 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11911 Neighboring gene transmembrane protein 177 Neighboring gene ribosomal protein L17 pseudogene 15

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. VISTA Enhancer Browser--a database of tissue-specific human enhancers. Visel A, et al. Nucleic Acids Res, 2007 Jan. PMID 17130149, 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

  • H3K4me1 hESC enhancer GRCh37_chr2:120246219-120247138

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_053843.1 

    Range
    101..4508
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    119487057..119491464
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    119920563..119924970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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