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LOC130067344 ATAC-STARR-seq lymphoblastoid active region 18946 [ Homo sapiens (human) ]

Gene ID: 130067344, updated on 14-Oct-2023

Summary

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Gene symbol
LOC130067344
Gene description
ATAC-STARR-seq lymphoblastoid active region 18946
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 LOC130067344 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37168294..37168353)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37628217..37628276)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37456737-37457594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37457595-37458452 Neighboring gene RN7SK pseudogene 214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37459305-37460128 Neighboring gene potassium channel tetramerization domain containing 17 Neighboring gene transmembrane serine protease 6 Neighboring gene uncharacterized LOC124905113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37473809-37474310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37476421-37477401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37483940-37485139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37494011-37494516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37503983-37504484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18943 Neighboring gene interleukin 2 receptor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18944 Neighboring gene IL2RB promoter Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18945 Neighboring gene IL2RB LTR promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37575666-37576526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37576527-37577386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37583391-37584026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584027-37584660 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584661-37585296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:37585297-37585930 Neighboring gene C1q and TNF related 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37593748-37594318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37594319-37594888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37607356-37608335 Neighboring gene somatostatin receptor 3 Neighboring gene ribosomal protein L39 pseudogene 41

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 across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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

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_201759.1 

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    37168294..37168353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    37628217..37628276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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