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LOC129935687 ATAC-STARR-seq lymphoblastoid active region 17171 [ Homo sapiens (human) ]

Gene ID: 129935687, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129935687
Gene description
ATAC-STARR-seq lymphoblastoid active region 17171
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 LOC129935687 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 (223048786..223048845)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (223531603..223531662)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (223913504..223913563)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase long chain family member 3 Neighboring gene ACSL3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12375 Neighboring gene zinc finger protein 79 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17170 Neighboring gene Sharpr-MPRA regulatory region 15139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:223917216-223917763 Neighboring gene uncharacterized LOC124907986 Neighboring gene potassium voltage-gated channel subfamily E regulatory subunit 4 Neighboring gene uncharacterized LOC105373905

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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_168698.1 

    Range
    101..160
    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
    223048786..223048845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    223531603..223531662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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