LOC130056963 (ATAC-STARR-seq lymphoblastoid active region 9333) - Rat Genome Database

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Gene: LOC130056963 (ATAC-STARR-seq lymphoblastoid active region 9333) Homo sapiens
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Symbol: LOC130056963
Name: ATAC-STARR-seq lymphoblastoid active region 9333
RGD ID: 329840501
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
GRCh381543,949,092 - 43,949,201 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371544,241,290 - 44,241,399 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01541,756,450 - 41,756,559 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:35858748  



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1 to 1 of 1 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1 copy number loss See cases [RCV000143109] Chr15:43696563..44541320 [GRCh38]
Chr15:43988761..44833518 [GRCh37]
Chr15:41776053..42620810 [NCBI36]
Chr15:15q15.3-21.1		 uncertain significance
1 to 1 of 1 rows

The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
RefSeq Transcripts NG_191384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
COSMIC LOC130056963 COSMIC
GTEx LOC130056963 GTEx
Human Proteome Map LOC130056963 Human Proteome Map
NCBI Gene LOC130056963 ENTREZGENE