Variant report

Variant	rs1021415
Chromosome Location	chr8:100389266-100389267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1011534	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504990	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10504991	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10504992	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11984531	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985286	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985354	0.94[EUR][1000 genomes]
rs11985377	0.94[EUR][1000 genomes]
rs11986138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11986652	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[LWK][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11987013	0.85[AMR][1000 genomes]
rs11987034	0.85[AMR][1000 genomes]
rs11988133	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11989163	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11989337	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989649	0.80[ASN][1000 genomes]
rs11990072	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990603	0.80[ASN][1000 genomes]
rs11990888	0.83[EUR][1000 genomes]
rs11991039	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992424	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11992778	0.85[AMR][1000 genomes]
rs11993237	0.94[EUR][1000 genomes]
rs11994445	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994623	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11995021	0.94[EUR][1000 genomes]
rs11995289	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11995956	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996944	0.94[EUR][1000 genomes]
rs11997104	0.94[EUR][1000 genomes]
rs11997495	0.94[EUR][1000 genomes]
rs11998193	0.82[EUR][1000 genomes]
rs11998245	0.94[EUR][1000 genomes]
rs1552443	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16897255	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897302	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897325	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897326	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16897439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34064887	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930351	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35755686	0.94[EUR][1000 genomes]
rs4501558	0.94[EUR][1000 genomes]
rs4734427	0.94[EUR][1000 genomes]
rs4734428	0.94[EUR][1000 genomes]
rs4734429	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735605	0.83[EUR][1000 genomes]
rs4735606	0.94[EUR][1000 genomes]
rs4735608	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735611	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735612	1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735623	0.80[AMR][1000 genomes]
rs6982694	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987040	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7008629	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008833	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672316	0.83[EUR][1000 genomes]
rs72672328	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672329	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672337	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672342	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672349	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672353	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672355	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672374	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672378	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72674605	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674607	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674611	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674612	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674616	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72674626	0.97[ASN][1000 genomes]
rs7387700	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462943	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818738	0.83[EUR][1000 genomes]
rs7819606	0.94[EUR][1000 genomes]
rs7832916	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7833256	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.80[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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv831407	chr8:100284406-100448725	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv529685	chr8:100290888-100463947	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
20	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
21	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
22	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
23	nsv1015966	chr8:100387076-100481107	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1021415	PLAUR	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100367800-100403800	Weak transcription	Ovary	ovary
2	chr8:100379800-100403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:100384400-100437600	Weak transcription	Lung	lung
4	chr8:100384800-100389800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:100385800-100403600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:100386000-100428800	Weak transcription	Esophagus	oesophagus
7	chr8:100386800-100408400	Weak transcription	Small Intestine	intestine
8	chr8:100387400-100389400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:100387400-100403800	Weak transcription	Left Ventricle	heart
10	chr8:100387600-100389800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:100387800-100389400	Weak transcription	Liver	Liver
12	chr8:100388400-100389400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:100388400-100390200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:100388400-100398800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:100388600-100390000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr8:100388600-100393400	Weak transcription	Fetal Kidney	kidney
17	chr8:100389200-100389800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:100389200-100389800	ZNF genes & repeats	Fetal Lung	lung
19	chr8:100389200-100390000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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