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LOC110121227 VISTA enhancer hs1937 [ Homo sapiens (human) ]

Gene ID: 110121227, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121227
Gene description
VISTA enhancer hs1937
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 embryonic branchial arch, dorsal root ganglion, ear, heart, hindbrain, limb and other tissues of transgenic mice. A subregion marked by the H3K4me1 histone modification was also shown to be an active enhancer by ChIP-STARR-seq in naive human embryonic stem cells. [provided by RefSeq, Nov 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 (240368562..240373577)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (240862165..240867170)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241307979..241312994)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241191177-241191688 Neighboring gene uncharacterized LOC105373968 Neighboring gene Sharpr-MPRA regulatory region 2002 Neighboring gene VISTA enhancer hs1750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241226785-241227284 Neighboring gene uncharacterized LOC124906196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241230324-241231300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241232276-241233251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241264697-241265596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241293407-241294054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241294055-241294702 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:241301246-241301403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241313445-241313999 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:241316604-241317104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:241317105-241317605 Neighboring gene uncharacterized LOC102723825 Neighboring gene NFE2L2 motif-containing MPRA enhancer 30 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241338263-241338901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241339542-241340180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241351335-241351920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241366327-241366828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241366829-241367328 Neighboring gene Sharpr-MPRA regulatory region 14717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241374143-241374719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241376453-241377029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241377081-241377582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241394718-241395368 Neighboring gene glypican 1 Neighboring gene GPC1 antisense RNA 1 Neighboring gene microRNA 149

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_chr2:241309047-241309936

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_053842.1 

    Range
    101..5116
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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
    240368562..240373577
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    240862165..240867170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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