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LOC129933686 ATAC-STARR-seq lymphoblastoid active region 15725 [ Homo sapiens (human) ]

Gene ID: 129933686, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129933686
Gene description
ATAC-STARR-seq lymphoblastoid active region 15725
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 LOC129933686 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47176774..47176943)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47181886..47182055)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47403913..47404082)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47143015-47143989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15716 Neighboring gene multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Neighboring gene Sharpr-MPRA regulatory region 4700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47184163-47184662 Neighboring gene tetratricopeptide repeat domain 7A Neighboring gene Sharpr-MPRA regulatory region 1272/3994 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:47201305-47202504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47214570-47215070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47215071-47215571 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47229712-47229877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47231529-47232241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47233455-47234351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47247642-47248142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47252405-47252904 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:47260876-47262075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47273445-47273945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47272944-47273444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47276757-47277730 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47278786-47278992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47282739-47283687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47293527-47294085 Neighboring gene VISTA enhancer hs1967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47307103-47307880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47307881-47308656 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:47316060-47317259 Neighboring gene sperm-tail PG-rich repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15722 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:47402112-47402778 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47402802-47402952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15724 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47420493-47421014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47419971-47420492 Neighboring gene calmodulin 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47434831-47435330 Neighboring gene EPCAM divergent transcript Neighboring gene uncharacterized LOC105374588 Neighboring gene uncharacterized LOC124907763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47465802-47466556

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_166712.1 

    Range
    101..270
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    47176774..47176943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    47181886..47182055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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