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LOC110120978 VISTA enhancer hs1066 [ Homo sapiens (human) ]

Gene ID: 110120978, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110120978
Gene description
VISTA enhancer hs1066
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. The major subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic forebrain, hindbrain and midbrain of transgenic mice. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells, where both are associated with the NANOG transcription factor and are marked by the H3K4me1 histone modification. [provided by RefSeq, Oct 2022]
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Genomic context

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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (63048560..63050079)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (63055637..63057156)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (63275695..63277103)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EH domain binding protein 1 Neighboring gene VISTA enhancer hs690 Neighboring gene ribosomal protein S20 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15873 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63270899-63271878 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63271879-63272858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:63274968-63275716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63280773-63281719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63283391-63283950 Neighboring gene EHBP1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 3143 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 1 pseudogene Neighboring gene orthodenticle homeobox 1 Neighboring gene ribosomal protein L27 pseudogene 5

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

  • NANOG-H3K4me1 hESC enhancer GRCh37_chr2:63275717-63276466
  • NANOG-H3K4me1 hESC enhancer GRCh37_chr2:63276467-63277214xxxxxxxxxxxxxxx

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_053599.2 

    Range
    101..1620
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    63048560..63050079
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    63055637..63057156
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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