LOC114827845 (VISTA enhancer hs2576) - Rat Genome Database

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Gene: LOC114827845 (VISTA enhancer hs2576) Homo sapiens
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Symbol: LOC114827845
Name: VISTA enhancer hs2576
RGD ID: 38665337
Description: This locus represents a conserved genomic element that can function as an enhancer. The major subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic eye of transgenic mice. This locus also includes two accessible chromatin subregions, one of which was validated as an enhancer and the other as a silencer based on their ability to activate or repress 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
GRCh386159,124,757 - 159,127,818 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376159,545,789 - 159,548,850 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.06160,370,357 - 160,373,418 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:17130149   PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss See cases [RCV000137831] Chr6:155378049..163133499 [GRCh38]
Chr6:155699183..163554531 [GRCh37]
Chr6:155740875..163474521 [NCBI36]
Chr6:6q25.3-26		 pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 copy number loss See cases [RCV000139578] Chr6:150381239..159553952 [GRCh38]
Chr6:150702375..159974984 [GRCh37]
Chr6:150744068..159894974 [NCBI36]
Chr6:6q25.1-25.3		 pathogenic
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 copy number gain See cases [RCV000143618] Chr6:158585724..160899783 [GRCh38]
Chr6:159006756..161320815 [GRCh37]
Chr6:158926744..161240805 [NCBI36]
Chr6:6q25.3-26		 uncertain significance
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3 copy number gain See cases [RCV000051903] Chr6:157827805..159726548 [GRCh38]
Chr6:158248837..160147580 [GRCh37]
Chr6:158168825..160067570 [NCBI36]
Chr6:6q25.3		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
NC_000006.12:g.(?_150381239)_(159553952_?)del deletion Chromosome 6q24-q25 deletion syndrome [RCV003884000] Chr6:150381239..159553952 [GRCh38]
Chr6:6q25.1-25.3		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC114827845 COSMIC
GTEx LOC114827845 GTEx
Human Proteome Map LOC114827845 Human Proteome Map
NCBI Gene LOC114827845 ENTREZGENE