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LOC112042778 H3K4me1 hESC enhancer GRCh37_chr11:118529141-118529690 [ Homo sapiens (human) ]

Gene ID: 112042778, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112042778
Gene description
H3K4me1 hESC enhancer GRCh37_chr11:118529141-118529690
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 human embryonic stem cells, where it is marked by the H3K4me1 histone modification. 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 non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118658432..118658981)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118677653..118678202)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118529349..118529643)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene archain 1 Neighboring gene uncharacterized LOC124902765 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3949 Neighboring gene Sharpr-MPRA regulatory region 10010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118479501-118480175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118480176-118480849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118486166-118486683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118486684-118487200 Neighboring gene pleckstrin homology like domain family B member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118488753-118489268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118501544-118502052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118502053-118502560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118505587-118506258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118514693-118515192 Neighboring gene microRNA 6716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118529691-118530240 Neighboring gene trehalase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118549589-118550250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118550251-118550910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118558272-118558787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118558788-118559302 Neighboring gene uncharacterized LOC105369519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5597 Neighboring gene trehalase pseudogene 1 Neighboring gene RNA, U6 small nuclear 376, 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. 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 11464

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_056427.2 

    Range
    101..650
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    118658432..118658981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    118677653..118678202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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