Variant report

Variant	rs7834596
Chromosome Location	chr8:120429282-120429283
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120276101..120276967-chr8:120428773..120429772,7	MCF-7	breast:
2	chr8:120275989..120276836-chr8:120428860..120429618,5	MCF-7	breast:

Extended variants
information (count: 192 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:189)

rs_ID	r²[population]
rs10505355	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505356	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505357	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505359	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505361	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505362	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10575	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057732	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1058913	1.00[JPT][hapmap]
rs10955927	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11526	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11775043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775209	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776544	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11778277	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778491	0.90[EUR][1000 genomes]
rs11779998	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780146	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780200	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780243	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781027	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11781723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782103	0.90[EUR][1000 genomes]
rs11782222	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782840	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782995	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783464	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783703	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784229	1.00[JPT][hapmap]
rs11784242	0.90[EUR][1000 genomes]
rs11785549	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786524	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786573	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786577	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381333	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381335	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381338	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs14324	0.91[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461690	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461691	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1461693	0.90[EUR][1000 genomes]
rs1461695	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1461696	0.90[EUR][1000 genomes]
rs1551784	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551785	1.00[ASN][1000 genomes]
rs1599473	1.00[JPT][hapmap]
rs1599476	1.00[ASN][1000 genomes]
rs16892511	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892552	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16892582	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16892628	0.82[EUR][1000 genomes]
rs16892639	0.82[EUR][1000 genomes]
rs17187482	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187503	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187655	0.88[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188194	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188373	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189020	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17192692	1.00[JPT][hapmap]
rs17790807	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791184	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791208	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17791334	0.90[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792124	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792171	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17793097	1.00[ASN][1000 genomes]
rs17801314	1.00[JPT][hapmap]
rs1895706	1.00[JPT][hapmap]
rs2071518	0.92[MEX][hapmap]
rs2071519	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2071526	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2279112	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2432984	1.00[JPT][hapmap]
rs2447153	1.00[ASN][1000 genomes]
rs2447155	1.00[ASN][1000 genomes]
rs2447157	1.00[ASN][1000 genomes]
rs2447158	1.00[ASN][1000 genomes]
rs2447159	1.00[ASN][1000 genomes]
rs2447160	1.00[ASN][1000 genomes]
rs2447163	1.00[ASN][1000 genomes]
rs2447164	1.00[ASN][1000 genomes]
rs2447165	1.00[ASN][1000 genomes]
rs2447167	1.00[ASN][1000 genomes]
rs2447168	1.00[ASN][1000 genomes]
rs2447169	1.00[ASN][1000 genomes]
rs2447170	1.00[ASN][1000 genomes]
rs2447171	1.00[ASN][1000 genomes]
rs2447172	1.00[ASN][1000 genomes]
rs2447173	1.00[ASN][1000 genomes]
rs2447174	1.00[ASN][1000 genomes]
rs2447176	1.00[ASN][1000 genomes]
rs2447177	1.00[ASN][1000 genomes]
rs2447178	1.00[ASN][1000 genomes]
rs2447179	1.00[ASN][1000 genomes]
rs2447180	1.00[ASN][1000 genomes]
rs2447181	1.00[ASN][1000 genomes]
rs2447182	1.00[ASN][1000 genomes]
rs2447183	1.00[ASN][1000 genomes]
rs2469996	1.00[ASN][1000 genomes]
rs2469997	1.00[ASN][1000 genomes]
rs2469998	1.00[ASN][1000 genomes]
rs2469999	1.00[ASN][1000 genomes]
rs2470001	1.00[ASN][1000 genomes]
rs2470002	1.00[ASN][1000 genomes]
rs2470003	1.00[ASN][1000 genomes]
rs2470004	1.00[ASN][1000 genomes]
rs2470005	1.00[ASN][1000 genomes]
rs2470006	1.00[ASN][1000 genomes]
rs2470007	1.00[ASN][1000 genomes]
rs2470010	1.00[ASN][1000 genomes]
rs2470011	1.00[ASN][1000 genomes]
rs2470012	1.00[ASN][1000 genomes]
rs2470013	1.00[ASN][1000 genomes]
rs2470014	1.00[ASN][1000 genomes]
rs2470015	1.00[ASN][1000 genomes]
rs2470016	1.00[ASN][1000 genomes]
rs2470017	1.00[ASN][1000 genomes]
rs2470018	1.00[ASN][1000 genomes]
rs2470021	1.00[ASN][1000 genomes]
rs2470023	1.00[ASN][1000 genomes]
rs2470024	1.00[ASN][1000 genomes]
rs2470025	1.00[ASN][1000 genomes]
rs2470026	1.00[ASN][1000 genomes]
rs2470028	1.00[ASN][1000 genomes]
rs2470030	1.00[ASN][1000 genomes]
rs2470031	1.00[ASN][1000 genomes]
rs2470032	1.00[ASN][1000 genomes]
rs2470033	1.00[ASN][1000 genomes]
rs2470034	1.00[ASN][1000 genomes]
rs2470035	1.00[ASN][1000 genomes]
rs2470040	1.00[ASN][1000 genomes]
rs2875872	1.00[JPT][hapmap]
rs2957356	1.00[ASN][1000 genomes]
rs2957357	1.00[ASN][1000 genomes]
rs3110337	1.00[ASN][1000 genomes]
rs34112166	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928531	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4123837	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019665	1.00[ASN][1000 genomes]
rs55883962	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56013326	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56736221	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56774448	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56782665	0.90[EUR][1000 genomes]
rs56860849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57333327	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57534632	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57788046	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210708	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58486051	0.88[EUR][1000 genomes]
rs58576806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58619390	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58659618	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58936256	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59780141	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60859300	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60978064	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61064779	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61100635	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983056	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6983393	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6990760	0.82[EUR][1000 genomes]
rs6993389	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6996275	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997943	0.82[EUR][1000 genomes]
rs7012790	0.90[EUR][1000 genomes]
rs7014927	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7015188	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7016011	0.82[EUR][1000 genomes]
rs7017173	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722783	0.87[EUR][1000 genomes]
rs72684286	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7341594	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709779	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709783	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711267	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713572	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713574	0.88[EUR][1000 genomes]
rs73713589	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746642	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815177	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815390	1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816205	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816347	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828460	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832471	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834463	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839760	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7834596	NOV	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120428000-120429400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr8:120428000-120429400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:120428000-120429400	Active TSS	Brain Anterior Caudate	brain
4	chr8:120428000-120429400	Active TSS	Brain Germinal Matrix	brain
5	chr8:120428000-120429600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:120428000-120429600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:120428000-120429600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:120428000-120429600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr8:120428000-120429600	Active TSS	Brain Angular Gyrus	brain
10	chr8:120428000-120429800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:120428000-120429800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:120428000-120430200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:120428000-120431200	Active TSS	Aorta	Aorta
14	chr8:120428200-120429400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:120428200-120429400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:120428200-120429400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:120428200-120429400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:120428200-120429400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:120428200-120429400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:120428200-120429400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
21	chr8:120428200-120429400	Flanking Active TSS	Pancreas	Pancrea
22	chr8:120428200-120429400	Active TSS	Psoas Muscle	Psoas
23	chr8:120428200-120429400	Active TSS	Rectal Smooth Muscle	rectum
24	chr8:120428200-120429400	Flanking Active TSS	Right Ventricle	heart
25	chr8:120428200-120429400	Active TSS	A549	lung
26	chr8:120428200-120429400	Flanking Active TSS	HMEC	breast
27	chr8:120428200-120429400	Flanking Active TSS	HUVEC	blood vessel
28	chr8:120428200-120429400	Flanking Active TSS	NH-A	brain
29	chr8:120428200-120429400	Flanking Active TSS	NHEK	skin
30	chr8:120428200-120429600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr8:120428200-120429600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:120428200-120429600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr8:120428200-120429600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr8:120428200-120429600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:120428200-120429600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:120428200-120429600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr8:120428200-120429600	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr8:120428200-120429600	Active TSS	Fetal Kidney	kidney
39	chr8:120428200-120429600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:120428200-120429600	Active TSS	Right Atrium	heart
41	chr8:120428200-120429600	Flanking Active TSS	Osteobl	bone
42	chr8:120428200-120429800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:120428200-120429800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:120428200-120429800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:120428200-120429800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr8:120428200-120431000	Active TSS	NHDF-Ad	bronchial
47	chr8:120428400-120429400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:120428400-120429400	Active TSS	Fetal Brain Male	brain
49	chr8:120428400-120429600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr8:120428400-120429600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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