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LOC111589213 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44851341-44851996 [ Homo sapiens (human) ]

Gene ID: 111589213, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111589213
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44851341-44851996
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 K562 erythroleukemia cells. That subregion contains a motif for the ZFP161 transcription factor, 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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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (46773975..46774630)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (47635439..47636094)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (44851650..44851794)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 37 member A2 Neighboring gene N-ethylmaleimide sensitive factor, vesicle fusing ATPase Neighboring gene vesicle-associated membrane protein 5-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:44809975-44810751 Neighboring gene Sharpr-MPRA regulatory region 12503 Neighboring gene Sharpr-MPRA regulatory region 3126 Neighboring gene ribosomal protein S7 pseudogene 11 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44849369-44850026 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44850027-44850682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44850683-44851340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44853512-44854187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44859348-44860034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44863520-44864436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44862602-44863519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44886481-44887010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44887011-44887538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44891812-44892716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44897113-44897700 Neighboring gene uncharacterized LOC101929777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44909071-44909718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44909719-44910366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44910367-44911014 Neighboring gene Wnt family member 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:44922250-44922415 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:44941221-44941463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44941567-44942392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:44953785-44954385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44955695-44956194 Neighboring gene Wnt family member 9B

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

  • ZFP161 motif-containing MPRA enhancer 249
  • ZFP161 transcription factor MPRA enhancer 249
  • massively parallel reporter assay enhancer 249

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_056084.2 

    Range
    101..756
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    46773975..46774630
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167251.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1759849..1760504
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187663.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    1293382..1294037
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    47635439..47636094
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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