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LOC121847999 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88829625-88830384 [ Homo sapiens (human) ]

Gene ID: 121847999, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121847999
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88829625-88830384
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 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 DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88763217..88763976)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94834853..94835612)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88829989..88830283)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene piezo type mechanosensitive ion channel component 1 (Er blood group) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7872 Neighboring gene HSP90AB1 associated lncRNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88810272-88810958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7873 Neighboring gene uncharacterized LOC339059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88830385-88831146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88834041-88834626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88834627-88835210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88835211-88835794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88836379-88836962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88836963-88837546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88842592-88843342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88850859-88851772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88856742-88857272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88869451-88870026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88870745-88871628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88871629-88872511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88873249-88873762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88876670-88877205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7879 Neighboring gene chromatin licensing and DNA replication factor 1 Neighboring gene adenine phosphoribosyltransferase

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 10451

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_076019.2 

    Range
    101..860
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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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    88763217..88763976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    94834853..94835612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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