Variant report

Variant	rs10504992
Chromosome Location	chr8:100532408-100532409
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	chr8:100525847..100527559-chr8:100529820..100532768,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1021415	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10504988	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10504990	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10504991	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11984855	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985286	0.80[ASN][1000 genomes]
rs11987013	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987034	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988133	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989337	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11989649	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990072	0.80[ASN][1000 genomes]
rs11992424	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992778	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11994445	0.80[ASN][1000 genomes]
rs11994623	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995956	0.80[ASN][1000 genomes]
rs11996543	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1349244	0.88[EUR][1000 genomes]
rs1349245	0.88[EUR][1000 genomes]
rs1449786	0.88[EUR][1000 genomes]
rs1449790	0.94[EUR][1000 genomes]
rs1449791	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1552443	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16897255	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs16897325	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs16897326	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];0.80[ASN][1000 genomes]
rs16897410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897488	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16897504	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897573	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs16897656	0.88[EUR][1000 genomes]
rs16897662	0.88[EUR][1000 genomes]
rs16897666	0.88[EUR][1000 genomes]
rs16897685	0.88[EUR][1000 genomes]
rs2067529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2084554	0.85[EUR][1000 genomes]
rs2084555	0.85[EUR][1000 genomes]
rs2100220	0.85[EUR][1000 genomes]
rs2122341	0.88[EUR][1000 genomes]
rs2167101	0.88[EUR][1000 genomes]
rs2871953	0.85[EUR][1000 genomes]
rs28847009	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34064887	0.80[ASN][1000 genomes]
rs4288349	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4342557	0.88[EUR][1000 genomes]
rs4531021	0.85[EUR][1000 genomes]
rs4734429	0.80[ASN][1000 genomes]
rs4734434	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734435	0.88[EUR][1000 genomes]
rs4734436	0.88[EUR][1000 genomes]
rs4734437	0.88[EUR][1000 genomes]
rs4734438	0.88[EUR][1000 genomes]
rs4734439	0.88[EUR][1000 genomes]
rs4735608	0.80[ASN][1000 genomes]
rs4735611	0.80[ASN][1000 genomes]
rs4735612	1.00[CHB][hapmap]
rs4735616	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735622	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735623	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735624	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735631	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735632	0.88[EUR][1000 genomes]
rs4735634	0.88[EUR][1000 genomes]
rs4735635	0.88[EUR][1000 genomes]
rs4735636	0.88[EUR][1000 genomes]
rs4735637	0.88[EUR][1000 genomes]
rs4735638	0.88[EUR][1000 genomes]
rs4735642	0.85[EUR][1000 genomes]
rs4735644	0.88[EUR][1000 genomes]
rs4735645	0.88[EUR][1000 genomes]
rs57753543	0.88[EUR][1000 genomes]
rs61753724	0.88[EUR][1000 genomes]
rs6982694	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7008629	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7008833	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72672349	0.80[ASN][1000 genomes]
rs72672353	0.80[ASN][1000 genomes]
rs72672355	0.80[ASN][1000 genomes]
rs72672374	0.80[ASN][1000 genomes]
rs72672378	0.80[ASN][1000 genomes]
rs72674605	0.80[ASN][1000 genomes]
rs72674607	0.80[ASN][1000 genomes]
rs72674611	0.80[ASN][1000 genomes]
rs72674612	0.80[ASN][1000 genomes]
rs72674616	0.80[ASN][1000 genomes]
rs72674626	0.83[ASN][1000 genomes]
rs7387462	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7387700	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7462943	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7832916	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833256	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833870	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
15	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
16	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
17	nsv891228	chr8:100532408-100546178	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10504992	PLAUR	trans	lymphoblastoid	seeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100491200-100537000	Weak transcription	Placenta	Placenta
2	chr8:100495200-100532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:100496400-100537200	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:100499400-100535200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:100503800-100536600	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:100505000-100534800	Weak transcription	Fetal Intestine Large	intestine
7	chr8:100506000-100535400	Weak transcription	Fetal Stomach	stomach
8	chr8:100508400-100535400	Weak transcription	Aorta	Aorta
9	chr8:100508400-100535400	Weak transcription	Right Ventricle	heart
10	chr8:100508400-100535600	Weak transcription	Pancreas	Pancrea
11	chr8:100508400-100538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:100508400-100574000	Weak transcription	Gastric	stomach
13	chr8:100511200-100538400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:100511600-100533000	Weak transcription	Dnd41	blood
15	chr8:100511600-100535400	Weak transcription	Ovary	ovary
16	chr8:100511600-100559400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:100511800-100533000	Weak transcription	HSMM	muscle
18	chr8:100511800-100539000	Weak transcription	Liver	Liver
19	chr8:100512000-100535400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:100512200-100534200	Weak transcription	NH-A	brain
21	chr8:100512200-100534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:100512200-100538400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:100512200-100545800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:100512200-100549800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:100512200-100557400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:100512200-100559400	Weak transcription	Small Intestine	intestine
27	chr8:100512400-100533000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:100512400-100535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:100512400-100545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:100512600-100533000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:100512600-100533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:100512600-100537400	Weak transcription	Brain Substantia Nigra	brain
33	chr8:100513200-100535400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:100514400-100535400	Weak transcription	Lung	lung
35	chr8:100515800-100533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:100516200-100533400	Weak transcription	NHDF-Ad	bronchial
37	chr8:100516400-100589000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:100516600-100533200	Weak transcription	Adipose Nuclei	Adipose
39	chr8:100516800-100533200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:100517000-100539000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:100517200-100533800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr8:100517200-100535400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:100517600-100542600	Weak transcription	Left Ventricle	heart
44	chr8:100517800-100533000	Weak transcription	GM12878-XiMat	blood
45	chr8:100519600-100533200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:100520200-100535400	Weak transcription	Esophagus	oesophagus
47	chr8:100523600-100533000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:100524200-100533000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:100524200-100533000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:100524400-100533200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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