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LOC121144497 H3K4me1 hESC enhancer GRCh37_chr7:1500481-1501032 [ Homo sapiens (human) ]

Gene ID: 121144497, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121144497
Gene description
H3K4me1 hESC enhancer GRCh37_chr7:1500481-1501032
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 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 and primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. 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 K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region), with weaker activity in HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 1:Tss). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (1460845..1461396)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1572978..1573529)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1500569..1500863)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1273513-1274057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1274230-1275058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1281290-1282188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1288405-1288950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1294047-1294547 Neighboring gene MPRA-validated peak6338 silencer Neighboring gene UNC homeobox Neighboring gene MS31A repeat instability region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1329612-1330486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1341047-1341548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1360639-1361139 Neighboring gene MPRA-validated peak6340 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1409793-1410317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17851 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1458534-1459206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1459207-1459877 Neighboring gene Sharpr-MPRA regulatory region 11952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1468179-1468734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1486489-1486993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1491449-1492000 Neighboring gene Sharpr-MPRA regulatory region 3173 Neighboring gene MICAL like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1497060-1497782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1497783-1498505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1499929-1500480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1505291-1505986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1505987-1506682 Neighboring gene MICALL2 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1509467-1510162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1533403-1533903 Neighboring gene integrator complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1545117-1545713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1545714-1546309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25492 Neighboring gene INTS1-MAFK intergenic CAGE-defined mid-level expression enhancer Neighboring gene uncharacterized LOC124901572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1563055-1563777

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 1985

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_074261.2 

    Range
    101..652
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    1460845..1461396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    1572978..1573529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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