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Gene: LOC127268128 (H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:24669049-24669863) Homo sapiens

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Symbol:

LOC127268128

Name:

H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:24669049-24669863

RGD ID:

155636295

Description:

This genomic region was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells. This enhancer is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Oct 2022]

Type:

biological-region

RefSeq Status:

REVIEWED

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	24,342,559 - 24,343,373 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	1	24,669,049 - 24,669,863 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
T2T-CHM13v2.0	1	24,180,660 - 24,181,474 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

References

Additional References at PubMed

PMID:30033119

Genomics

Variants

Variants in LOC127268128
31 total Variants

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
1576329	MYI9_H	Myocardial infarction susceptibility QTL 9 (human)	12		Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
597025120	GWAS1121194_H	Cleft palate QTL GWAS1121194 (human)		8e-08	Cleft palate		1	24342967	24342968	Human
597075200	GWAS1171274_H	Cleft palate QTL GWAS1171274 (human)		3e-08	Cleft palate		1	24342967	24342968	Human
597075201	GWAS1171275_H	Cleft palate QTL GWAS1171275 (human)		4e-09	Cleft palate		1	24342967	24342968	Human
597075436	GWAS1171510_H	Cleft palate QTL GWAS1171510 (human)		7e-08	Cleft palate		1	24342967	24342968	Human
597075437	GWAS1171511_H	Cleft palate QTL GWAS1171511 (human)		0.0000001	Cleft palate		1	24342967	24342968	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human
1576325	MYI1_H	Myocardial infarction susceptibility QTL 1 (human)	11.68	1e-12	Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
1643380	BW316_H	Body weight QTL 316 (human)	2.62	0.0002	Body weight	BMI	1	7585503	33585503	Human

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_089989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL138902	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	LOC127268128	COSMIC
GTEx	LOC127268128	GTEx
Human Proteome Map	LOC127268128	Human Proteome Map
NCBI Gene	LOC127268128	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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