LOC127890412 (H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10340651-10341365) - Rat Genome Database

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Gene: LOC127890412 (H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10340651-10341365) Homo sapiens
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Symbol: LOC127890412
Name: H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10340651-10341365
RGD ID: 155756363
Description: This genomic region includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. 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) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,229,956 - 10,230,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371910,340,632 - 10,341,365 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01910,356,079 - 10,356,816 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:30033119   PMID:35858748  


Genomics

Variants

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Variants in LOC127890412
2 total Variants

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
407407054GWAS1056030_Hneutrophil count QTL GWAS1056030 (human)4e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)191023017810230179Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human
407170475GWAS819451_Hreticulocyte count QTL GWAS819451 (human)3e-23reticulocyte counttotal reticulocyte count (CMO:0003020)191023023610230237Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC127890412 COSMIC
GTEx LOC127890412 GTEx
Human Proteome Map LOC127890412 Human Proteome Map
NCBI Gene LOC127890412 ENTREZGENE