Variant report

Variant	rs11995289
Chromosome Location	chr8:100282658-100282659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1011534	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1021415	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504988	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11984531	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985286	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985354	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11985377	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986138	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986449	0.88[EUR][1000 genomes]
rs11986652	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987308	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11987800	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11988364	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989095	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11989337	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11989805	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11990072	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11990603	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11990888	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11991039	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993237	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11994445	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11995021	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11995381	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11995956	0.94[ASN][1000 genomes]
rs11996944	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997104	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997495	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998168	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998193	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998245	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897255	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897302	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897325	0.83[ASN][1000 genomes]
rs16897326	0.83[ASN][1000 genomes]
rs34064887	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34930351	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35318343	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35755686	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4501558	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4585717	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4734422	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4734423	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4734427	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734428	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734429	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735593	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4735594	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4735595	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735596	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735598	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735605	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735608	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735611	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735612	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57231976	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6982694	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987040	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7008629	0.83[ASN][1000 genomes]
rs7008833	0.83[ASN][1000 genomes]
rs72672316	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672328	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672329	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672337	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672342	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672349	0.94[ASN][1000 genomes]
rs72672353	0.94[ASN][1000 genomes]
rs72672355	0.94[ASN][1000 genomes]
rs72672374	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72672378	0.94[ASN][1000 genomes]
rs72674605	0.83[ASN][1000 genomes]
rs72674607	0.83[ASN][1000 genomes]
rs72674611	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72674612	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72674616	0.83[ASN][1000 genomes]
rs72674626	0.80[ASN][1000 genomes]
rs7387700	0.83[ASN][1000 genomes]
rs7462943	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7814617	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7818738	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7819606	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7832595	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1031524	chr8:100204139-100399935	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv933080	chr8:100204936-100417432	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv611810	chr8:100208966-100301621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv891223	chr8:100232372-100284110	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv891224	chr8:100232372-100336092	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv611811	chr8:100232372-100336447	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv531506	chr8:100242477-100344417	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1027031	chr8:100250184-100442195	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv539696	chr8:100250184-100442195	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv891225	chr8:100250253-100286280	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv933677	chr8:100254133-100455039	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100207000-100290400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:100214800-100293200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:100246400-100288200	Weak transcription	Primary T cells from cord blood	blood
4	chr8:100253400-100292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:100263600-100287800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:100268200-100293200	Weak transcription	Aorta	Aorta
7	chr8:100268400-100290000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:100273000-100290400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:100274400-100292200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:100278800-100302400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:100280600-100293200	Weak transcription	Left Ventricle	heart
12	chr8:100280800-100292200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:100280800-100299000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:100281200-100283800	Weak transcription	Primary B cells from cord blood	blood
15	chr8:100282200-100290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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