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LOC129930571 ATAC-STARR-seq lymphoblastoid active region 1047 [ Homo sapiens (human) ]

Gene ID: 129930571, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129930571
Gene description
ATAC-STARR-seq lymphoblastoid active region 1047
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 represents an accessible chromatin region 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) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC129930571 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (53345666..53345895)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (53227875..53228104)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53811338..53811567)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene LDL receptor related protein 8 Neighboring gene uncharacterized LOC105378726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53760223-53760764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53760765-53761305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53773439-53774256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53774971-53775472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53775473-53775972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53777583-53778082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53784579-53785264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53785265-53785950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53790955-53791710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 905 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 906 Neighboring gene Sharpr-MPRA regulatory region 13758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1046 Neighboring gene uncharacterized LOC105378731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53805229-53805730 Neighboring gene LRP8 divergent transcript Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:53816803-53817658 Neighboring gene long intergenic non-protein coding RNA 2812 Neighboring gene hESC enhancers GRCh37_chr1:53858569-53859069 and GRCh37_chr1:53859129-53859812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53862275-53863150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53863151-53864025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53874144-53874739 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:53895322-53895839 Neighboring gene MPRA-validated peak233 silencer Neighboring gene uncharacterized LOC105378733 Neighboring gene solute carrier family 25 member 3 pseudogene 1

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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_163622.1 

    Range
    101..330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    53345666..53345895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    53227875..53228104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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