U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC113748409 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73242333-73242980 [ Homo sapiens (human) ]

Gene ID: 113748409, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC113748409
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73242333-73242980
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 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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin), with weaker activity in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jan 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73828003..73828650)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75028904..75029545)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73242529..73242823)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73152931-73153588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73153589-73154245 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:73156848-73158047 Neighboring gene abhydrolase domain containing 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73175993-73176570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73176571-73177148 Neighboring gene claudin 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:73213712-73214352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18267 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:73234209-73234787 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:73236582-73237781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73241685-73242332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245012-73245714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245715-73246417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26130 Neighboring gene claudin 4 Neighboring gene methyltransferase like 27

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  2. 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
  3. 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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • Sharpr-MPRA regulatory region 14121

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_062520.2 

    Range
    101..748
    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
    73828003..73828650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    75028904..75029545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases