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LOC121627845 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1795609-1796421 [ Homo sapiens (human) ]

Gene ID: 121627845, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627845
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1795609-1796421
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). The same subregion also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1795610..1796422)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1766957..1767763)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1795829..1796123)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1223, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1626353-1626854 Neighboring gene transcription factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1649155-1649654 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1651633-1651855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13623 Neighboring gene MPRA-validated peak3223 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1667070-1667570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1668943-1669693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1672373-1672900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1690448-1690998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1690999-1691550 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1722988-1723177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1725449-1725948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1743285-1743784 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1743951-1744173 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1747113-1748312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1748390-1748908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1757201-1757790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1757791-1758378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1762447-1762983 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1765801-1766322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1767617-1768311 Neighboring gene one cut homeobox 3 Neighboring gene uncharacterized LOC101928543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1789295-1790117 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1796422-1797233 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1799861-1800031 Neighboring gene ATPase phospholipid transporting 8B3 Neighboring gene MPRA-validated peak3225 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1811783-1812528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13626 Neighboring gene uncharacterized LOC100288123 Neighboring gene microRNA 1909 Neighboring gene RNA exonuclease 1 homolog

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

  • Sharpr-MPRA regulatory region 3984

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_075036.2 

    Range
    101..913
    Download
    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    1795610..1796422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    1766957..1767763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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