Variant report

Variant	rs717983
Chromosome Location	chr7:19018952-19018953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2158495	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2158496	0.87[ASN][1000 genomes]
rs58797877	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71524263	0.81[ASN][1000 genomes]
rs73307090	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73307092	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032870	chr7:18982862-19021763	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538765	chr7:18982862-19021763	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18991400-19025000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:19013800-19040800	Weak transcription	Aorta	Aorta
3	chr7:19015600-19020600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:19015800-19042400	Weak transcription	Left Ventricle	heart
5	chr7:19017200-19019600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:19017400-19019400	Enhancers	NHLF	lung
7	chr7:19017400-19026000	Weak transcription	HSMMtube	muscle
8	chr7:19017600-19022600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:19017600-19029800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:19017800-19019400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:19017800-19029800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:19018600-19019000	Enhancers	NHDF-Ad	bronchial
13	chr7:19018600-19021800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:19018800-19033600	Weak transcription	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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