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LOC111365219 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:126017458-126018104 [ Homo sapiens (human) ]

Gene ID: 111365219, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365219
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:126017458-126018104
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region was predicted to be a cell type-specific enhancer 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 high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. That subregion contains a conserved motif for the HNF4 activator, and mutation of the motif results in reduced enhancer activity. [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC111365219 in Genome Data Viewer
Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (126147563..126148209)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (126177084..126177730)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (126017792..126017936)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902784 Neighboring gene uncharacterized LOC105369591 Neighboring gene uncharacterized LOC124902783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:126016810-126017457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:126029789-126030433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:126030434-126031078 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:126052865-126053364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:126055613-126056538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5703 Neighboring gene RNA pseudouridine synthase D4 Neighboring gene family with sequence similarity 118 member B Neighboring gene RNA, U4 small nuclear 86, pseudogene

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. Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. Kheradpour P, et al. Genome Res, 2013 May. PMID 23512712, Free PMC Article
  2. Mapping and analysis of chromatin state dynamics in nine human cell types. Ernst J, et al. Nature, 2011 May 5. PMID 21441907, 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

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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

  • HNF4 activator MPRA enhancer 115
  • HNF4 motif-containing MPRA enhancer 115
  • massively parallel reporter assay enhancer 115

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_055836.2 

    Range
    101..747
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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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    126147563..126148209
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    126177084..126177730
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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