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LOC129935349 ATAC-STARR-seq lymphoblastoid active region 16929 [ Homo sapiens (human) ]

Gene ID: 129935349, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129935349
Gene description
ATAC-STARR-seq lymphoblastoid active region 16929
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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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197307480..197307559)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197791217..197791297)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198172204..198172283)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16918 Neighboring gene ANKRD44 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16921 Neighboring gene ANKRD44 intronic transcript 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:198120663-198121319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16923 Neighboring gene ATP5MC2 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:198174355-198174856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12212 Neighboring gene ANKRD44 divergent transcript Neighboring gene nucleophosmin 1 pseudogene 46

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_168364.1 

    Range
    101..180
    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
    197307480..197307559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    197791217..197791297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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