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LOC111413018 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69235307-69235881 [ Homo sapiens (human) ]

Gene ID: 111413018, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111413018
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69235307-69235881
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 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 high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. That subregion contains a conserved motif for the NFE2L2 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 LOC111413018 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 (69420539..69421113)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (69437677..69438251)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (69235441..69235585)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69078345-69078844 Neighboring gene interferon induced transmembrane protein 9 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69088091-69088958 Neighboring gene uncharacterized LOC105369370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69153613-69154114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69154115-69154614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69157262-69158194 Neighboring gene MPRA-validated peak1324 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69214023-69214785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69215486-69215986 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3768 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69234157-69234732 Neighboring gene long intergenic non-protein coding RNA 2953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69249331-69250160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69251823-69252654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69253485-69254316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5159 Neighboring gene long intergenic non-protein coding RNA 2952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3693 Neighboring gene uncharacterized LOC124902703

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

  • NFE2L2 activator MPRA enhancer 149
  • NFE2L2 motif-containing MPRA enhancer 149
  • massively parallel reporter assay enhancer 149

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_055851.2 

    Range
    101..675
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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
    69420539..69421113
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    69437677..69438251
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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