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LOC121587558 hESC enhancers GRCh37_chr16:71421048-71421598 and GRCh37_chr16:71421599-71422149 [ Homo sapiens (human) ]

Gene ID: 121587558, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121587558
Gene description
hESC enhancers GRCh37_chr16:71421048-71421598 and GRCh37_chr16:71421599-71422149
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 were validated as active enhancers by ChIP-STARR-seq in human embryonic stem cells, where both are marked by the H3K27ac histone modification and one is additionally associated with the OCT4 and NANOG transcription factors. 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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Nov 2022]
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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 (71387145..71388246)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77204373..77205474)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71421389..71421683)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102725168 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:71371582-71372781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71392357-71393322 Neighboring gene Sharpr-MPRA regulatory region 14967 Neighboring gene uncharacterized LOC105371332 Neighboring gene Sharpr-MPRA regulatory region 5468 Neighboring gene calbindin 2 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:71420497-71421047 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71423333-71423878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71445925-71446426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11071 Neighboring gene long intergenic non-protein coding RNA 2136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71459785-71460285 Neighboring gene tRNA-Met (anticodon CAT) 2-1

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 hESC enhancer GRCh37_chr16:71421599-71422149
  • OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:71421048-71421598
  • Sharpr-MPRA regulatory region 8646

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_074845.2 

    Range
    101..1202
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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
    71387145..71388246
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_013171813.1 Reference GRCh38.p14 PATCHES

    Range
    254642..255743
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    77204373..77205474
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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