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LOC112577505 hESC enhancers GRCh37_chr1:16488540-16489068 and GRCh37_chr1:16489069-16489596 [ Homo sapiens (human) ]

Gene ID: 112577505, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112577505
Gene description
hESC enhancers GRCh37_chr1:16488540-16489068 and GRCh37_chr1:16489069-16489596
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 shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells, where both subregions are marked by the H3K4me1 histone modifications and one is additionally marked by H3K27ac. A 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 DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin), with weaker activity in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16162045..16163101)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15603439..15604495)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16488929..16489223)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CLCNKB recombination region Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16387001-16387191 Neighboring gene family with sequence similarity 131 member C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16400409-16400908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16408357-16408856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16408906-16409838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16440794-16441636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16442478-16443319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16444655-16445328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16446600-16447156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16449091-16449770 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16457212-16457413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16467866-16468833 Neighboring gene EPH receptor A2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16470345-16470872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16470873-16471401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16472987-16473515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16476741-16477376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16477377-16478012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16489597-16490124 Neighboring gene EPHA2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16490125-16490652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16491605-16492545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16494833-16495478 Neighboring gene Sharpr-MPRA regulatory region 6356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16508387-16509367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16510195-16510694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16510785-16511286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16511287-16511786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16533787-16534760 Neighboring gene Rho guanine nucleotide exchange factor 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16534761-16535733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16538951-16539649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16542837-16543533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 329 Neighboring gene anoctamin 7 like 1 (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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid active region 260
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16489069-16489596
  • H3K4me1 hESC enhancer GRCh37_chr1:16488540-16489068
  • Sharpr-MPRA regulatory region 8013

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_060221.2 

    Range
    101..1157
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    16162045..16163101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    15603439..15604495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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