LOC130057173 (ATAC-STARR-seq lymphoblastoid active region 9488) - Rat Genome Database

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Gene: LOC130057173 (ATAC-STARR-seq lymphoblastoid active region 9488) Homo sapiens
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Symbol: LOC130057173
Name: ATAC-STARR-seq lymphoblastoid active region 9488
RGD ID: 329814375
Description: 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]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381559,335,578 - 59,335,647 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371559,627,777 - 59,627,846 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01557,137,693 - 57,137,762 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1 copy number loss See cases [RCV000050884] Chr15:57456076..61907285 [GRCh38]
Chr15:57748274..62199484 [GRCh37]
Chr15:55535566..59986776 [NCBI36]
Chr15:15q21.3-22.2		 pathogenic
GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1 copy number loss See cases [RCV000051622] Chr15:57567950..63019415 [GRCh38]
Chr15:57860148..63311614 [GRCh37]
Chr15:55647440..61098667 [NCBI36]
Chr15:15q21.3-22.2		 pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130057173 COSMIC
GTEx LOC130057173 GTEx
Human Proteome Map LOC130057173 Human Proteome Map
NCBI Gene LOC130057173 ENTREZGENE