Variant report

Variant	rs6982694
Chromosome Location	chr8:100412759-100412760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1011534	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1021415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[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	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985286	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985354	0.88[EUR][1000 genomes]
rs11985377	0.88[EUR][1000 genomes]
rs11986138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[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[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	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989649	0.80[ASN][1000 genomes]
rs11990072	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990603	0.80[ASN][1000 genomes]
rs11991039	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992424	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11992778	0.85[AMR][1000 genomes]
rs11994445	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994623	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11995021	0.88[EUR][1000 genomes]
rs11995289	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11995956	0.88[ASN][1000 genomes]
rs11996944	0.88[EUR][1000 genomes]
rs11997104	0.88[EUR][1000 genomes]
rs11997495	0.88[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];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897302	0.85[AFR][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];1.00[AFR][1000 genomes];0.89[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];0.97[AFR][1000 genomes];0.89[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	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930351	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35755686	0.88[EUR][1000 genomes]
rs4734427	0.88[EUR][1000 genomes]
rs4734428	0.88[EUR][1000 genomes]
rs4734429	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735606	0.88[EUR][1000 genomes]
rs4735608	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735611	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735612	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735623	0.80[AMR][1000 genomes]
rs6987040	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7008629	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008833	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672328	0.83[ASN][1000 genomes]
rs72672329	0.83[ASN][1000 genomes]
rs72672337	0.83[ASN][1000 genomes]
rs72672342	0.83[ASN][1000 genomes]
rs72672349	0.88[ASN][1000 genomes]
rs72672353	0.88[ASN][1000 genomes]
rs72672355	0.88[ASN][1000 genomes]
rs72672374	0.88[ASN][1000 genomes]
rs72672378	0.88[ASN][1000 genomes]
rs72674605	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674607	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674611	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674612	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674616	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72674626	0.97[ASN][1000 genomes]
rs7387700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462943	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
23	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6982694	PLAUR	trans	lymphoblastoid	seeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100384400-100437600	Weak transcription	Lung	lung
2	chr8:100386000-100428800	Weak transcription	Esophagus	oesophagus
3	chr8:100389800-100418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:100390000-100421200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:100390200-100414000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:100390200-100415800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:100390400-100421200	Weak transcription	Aorta	Aorta
8	chr8:100391000-100428000	Weak transcription	Pancreas	Pancrea
9	chr8:100391400-100419800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:100391400-100430200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:100393600-100445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:100393800-100419000	Weak transcription	Fetal Kidney	kidney
13	chr8:100394000-100420000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:100394000-100420200	Weak transcription	Fetal Intestine Large	intestine
15	chr8:100394400-100415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:100394600-100416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:100394600-100417400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:100394600-100419000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:100395400-100416200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:100395400-100420200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:100395400-100432600	Weak transcription	Psoas Muscle	Psoas
22	chr8:100395600-100421000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:100396200-100430000	Weak transcription	HSMMtube	muscle
24	chr8:100396800-100414800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:100397000-100420800	Weak transcription	Adipose Nuclei	Adipose
26	chr8:100397200-100420400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:100397400-100424000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:100397800-100445000	Weak transcription	HSMM	muscle
29	chr8:100399800-100419800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:100399800-100445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
32	chr8:100403000-100415800	Weak transcription	K562	blood
33	chr8:100403200-100424600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:100403800-100415000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:100404200-100415800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:100404200-100418200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:100404400-100414200	Weak transcription	GM12878-XiMat	blood
38	chr8:100404400-100414800	Weak transcription	Fetal Lung	lung
39	chr8:100404400-100415800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:100404400-100415800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:100404400-100416200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:100404400-100417400	Weak transcription	Primary T cells from cord blood	blood
43	chr8:100404400-100418600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:100404400-100420000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:100404400-100420200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:100404400-100420200	Weak transcription	Liver	Liver
47	chr8:100404400-100420400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:100404400-100420600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:100404400-100420600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:100404400-100420800	Weak transcription	Duodenum Mucosa	Duodenum

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