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LOC120893114 Sharpr-MPRA regulatory region 13018 [ Homo sapiens (human) ]

Gene ID: 120893114, updated on 10-Oct-2023

Summary

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Gene symbol
LOC120893114
Gene description
Sharpr-MPRA regulatory region 13018
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 a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Mar 2021]
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Genomic context

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See LOC120893114 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17569194..17569488)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (17383181..17383475)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17895689..17895983)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903862 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17786613-17787420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17794449-17795104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17795105-17795758 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17795759-17796412 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17796413-17797066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17814091-17814734 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:17820926-17821068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17840929-17841430 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:17847786-17848452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17848453-17849117 Neighboring gene Rho guanine nucleotide exchange factor 10 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17873548-17874192 Neighboring gene Sharpr-MPRA regulatory region 1053 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17891467-17892088 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17892089-17892708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17894951-17895467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17895984-17896500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17897017-17897533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17907892-17908738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17915267-17915832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17916399-17916964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17934381-17934909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17936808-17937309 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:17942885-17943386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17955985-17956638 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:17956639-17957290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17974609-17975110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17992239-17992738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17993258-17994044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18003408-18004017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18009174-18009734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18010521-18011122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18012606-18013106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18013107-18013607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18016134-18016866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18027273-18027872 Neighboring gene long intergenic non-protein coding RNA 2810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18094554-18095120 Neighboring gene actin like 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18152523-18153112

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

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)

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_073748.1 

    Range
    101..395
    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
    17569194..17569488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    17383181..17383475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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