Variant report

Variant	rs9650672
Chromosome Location	chr8:86195294-86195295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86192573..86194109-chr8:86194202..86197119,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12216844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2432069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2432070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2432071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2432075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2432076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2432077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2432078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2432084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2452678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2452679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2466766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2466767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2466770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2466772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2645048	1.00[AMR][1000 genomes]
rs4150888	1.00[EUR][1000 genomes]
rs4150892	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4150899	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4150963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56257706	0.83[EUR][1000 genomes]
rs58060795	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688687	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688696	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73691803	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73691805	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9644809	0.83[EUR][1000 genomes]
rs9650670	0.93[ASN][1000 genomes]
rs9650671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9650673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86168000-86196200	Weak transcription	NHEK	skin
2	chr8:86168000-86199000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:86170800-86204400	Weak transcription	Ovary	ovary
4	chr8:86174600-86198200	Weak transcription	Left Ventricle	heart
5	chr8:86178000-86198200	Weak transcription	Aorta	Aorta
6	chr8:86182600-86196000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:86186600-86198800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:86187800-86195400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:86189800-86197800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:86190000-86201200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:86190200-86203600	Weak transcription	Fetal Stomach	stomach
12	chr8:86190200-86208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:86190200-86209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:86190200-86209600	Weak transcription	Gastric	stomach
15	chr8:86190400-86195400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:86191200-86208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:86191800-86196400	Weak transcription	Fetal Lung	lung
18	chr8:86195200-86195400	Enhancers	Psoas Muscle	Psoas
19	chr8:86195200-86195600	Weak transcription	Fetal Intestine Large	intestine

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