Variant report

Variant	rs2483585
Chromosome Location	chr10:116303358-116303359
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	chr10:116302698..116304630-chr10:116307887..116309527,2	MCF-7	breast:
2	chr10:116299755..116302305-chr10:116302434..116304411,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10749169	0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10749170	0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10885572	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885573	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885575	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885580	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11196779	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196780	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196781	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196785	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12569428	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145894	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247528	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2475239	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2475240	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2475241	0.91[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2475242	0.87[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2483531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2483564	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2483571	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483577	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2483579	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483580	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483584	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2483587	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483595	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483596	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497708	0.86[JPT][hapmap]
rs2497710	0.87[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2497712	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497717	0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497718	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497719	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497720	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2497721	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2497722	0.91[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2497723	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35078486	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144582	0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4514325	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568918	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56001223	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56086836	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339171	0.82[ASN][1000 genomes]
rs7094292	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs867736	0.95[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883511	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883768	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9421179	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116287200-116307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:116287400-116303800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:116287400-116310600	Weak transcription	Brain Angular Gyrus	brain
4	chr10:116287400-116310600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:116292400-116303800	Weak transcription	Pancreas	Pancrea
6	chr10:116296600-116303600	Enhancers	Fetal Thymus	thymus
7	chr10:116296800-116303400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:116297600-116305200	Enhancers	Dnd41	blood
9	chr10:116297600-116308600	Enhancers	Primary B cells from peripheral blood	blood
10	chr10:116297800-116308600	Enhancers	Stomach Mucosa	stomach
11	chr10:116298000-116308800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:116298200-116307800	Strong transcription	Fetal Intestine Small	intestine
13	chr10:116298400-116303600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr10:116298400-116307200	Strong transcription	Liver	Liver
15	chr10:116298400-116307600	Weak transcription	Brain Substantia Nigra	brain
16	chr10:116298400-116310200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:116298600-116303400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:116298600-116303400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:116298600-116303400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr10:116298600-116304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:116298600-116311600	Weak transcription	Gastric	stomach
22	chr10:116298800-116303400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr10:116298800-116310400	Weak transcription	Small Intestine	intestine
24	chr10:116298800-116310600	Weak transcription	Colonic Mucosa	Colon
25	chr10:116299600-116308200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:116299800-116308800	Genic enhancers	Left Ventricle	heart
27	chr10:116300000-116303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:116300000-116304000	Genic enhancers	Right Ventricle	heart
29	chr10:116300000-116306400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr10:116300200-116304000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:116300200-116307400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:116300400-116307600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:116300600-116303400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:116300600-116310600	Weak transcription	Brain Hippocampus Middle	brain
35	chr10:116300800-116304400	Strong transcription	Pancreatic Islets	Pancreatic Islet
36	chr10:116300800-116305000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:116301000-116303600	Weak transcription	Adipose Nuclei	Adipose
38	chr10:116301400-116303400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr10:116301400-116303600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr10:116301400-116303600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr10:116301600-116303600	Weak transcription	Fetal Intestine Large	intestine
42	chr10:116301600-116303600	Enhancers	Thymus	Thymus
43	chr10:116301600-116304000	Genic enhancers	Esophagus	oesophagus
44	chr10:116301800-116303400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr10:116301800-116303400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:116301800-116303600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr10:116301800-116303800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:116301800-116304200	Strong transcription	Fetal Heart	heart
49	chr10:116301800-116304800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:116301800-116307400	Weak transcription	Placenta	Placenta

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