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LOC129992105 ATAC-STARR-seq lymphoblastoid active region 21216 [ Homo sapiens (human) ]

Gene ID: 129992105, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129992105
Gene description
ATAC-STARR-seq lymphoblastoid active region 21216
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 LOC129992105 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (3075527..3075576)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (3074281..3074330)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3077254..3077303)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21213 Neighboring gene RNA, U6 small nuclear 204, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21214 Neighboring gene HTT antisense RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15199 Neighboring gene huntingtin repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21218 Neighboring gene RNA, U7 small nuclear 33 pseudogene Neighboring gene huntingtin Neighboring gene ReSE screen-validated silencer GRCh37_chr4:3137138-3137317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15201 Neighboring gene Sharpr-MPRA regulatory region 10599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3215178-3215678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3215679-3216179 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3239294-3239953 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:3239954-3240612 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:3248264-3248439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3252404-3253300 Neighboring gene Myb/SANT DNA binding domain containing 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_171551.1 

    Range
    101..150
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    3075527..3075576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    3074281..3074330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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