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LOC121603771 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:64974248-64974825 and GRCh37_chr17:64974826-64975402 [ Homo sapiens (human) ]

Gene ID: 121603771, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121603771
Gene description
H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:64974248-64974825 and GRCh37_chr17:64974826-64975402
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. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were validated as active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. An overlapping subregion was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 20:ReprD). [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (66978132..66979286)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (67853935..67855089)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (64974609..64974903)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:64874747-64874957 Neighboring gene RNA, 5S ribosomal pseudogene 446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64971595-64972549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64972550-64973503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64979083-64979584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12616 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65001812-65002312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65002313-65002813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12617 Neighboring gene MPRA-validated peak2947 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12618 Neighboring gene MPRA-validated peak2948 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65049323-65050167 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65061048-65061409 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 1 Neighboring gene MPRA-validated peak2950 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:65103924-65105123 Neighboring gene helicase with zinc finger Neighboring gene Sharpr-MPRA regulatory region 3705 Neighboring gene Sharpr-MPRA regulatory region 4721 Neighboring gene ribosomal protein L36a pseudogene 48

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

  • H3K27ac-H3K4me1 hESC enhancer
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:64974826-64975402
  • Sharpr-MPRA regulatory region 13644

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_074994.2 

    Range
    101..1255
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    66978132..66979286
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    67853935..67855089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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