Variant report

Variant	rs10934500
Chromosome Location	chr3:119568123-119568124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10433404	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10934502	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10934503	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10934505	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10934506	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10934507	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1154595	0.87[JPT][hapmap]
rs11915717	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11917714	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12054090	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12108149	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12629015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12630829	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12634476	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12634889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12635018	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12638973	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13314595	0.85[YRI][hapmap]
rs13321783	0.87[JPT][hapmap]
rs1574154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16830567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719889	0.92[YRI][hapmap]
rs1719894	0.87[JPT][hapmap]
rs1732170	0.91[JPT][hapmap]
rs1870931	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1980718	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276707	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2319398	0.87[JPT][hapmap]
rs2319399	0.87[JPT][hapmap]
rs28536662	0.87[JPT][hapmap]
rs2873950	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28831519	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3107669	0.87[JPT][hapmap]
rs3732359	0.87[JPT][hapmap];0.86[TSI][hapmap]
rs3732360	0.87[JPT][hapmap]
rs3732361	0.91[JPT][hapmap]
rs3814057	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3814058	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4261913	0.83[JPT][hapmap]
rs4340737	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][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];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4624596	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687890	0.87[JPT][hapmap]
rs4688042	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688046	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4688047	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4688054	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56728675	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57939147	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58493895	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58863896	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs60389731	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60393216	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62264706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62264708	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62264714	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62264734	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62264739	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62264742	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62264743	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62264747	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62264749	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62266274	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6438552	0.87[JPT][hapmap]
rs6438553	0.87[JPT][hapmap]
rs6770314	0.89[YRI][hapmap]
rs6773751	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6781942	0.87[JPT][hapmap]
rs6782799	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6784598	0.91[JPT][hapmap]
rs6790751	0.85[YRI][hapmap]
rs6792572	0.87[JPT][hapmap]
rs6795653	0.87[JPT][hapmap]
rs6797459	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6800622	0.87[JPT][hapmap]
rs6805251	0.86[JPT][hapmap]
rs6808874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7431209	0.86[JPT][hapmap]
rs7617372	0.85[YRI][hapmap]
rs7620750	0.85[YRI][hapmap]
rs7633279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7639388	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7644234	0.87[JPT][hapmap]
rs7652172	0.82[YRI][hapmap]
rs9813864	0.91[JPT][hapmap]
rs9851174	0.89[YRI][hapmap]
rs9873477	0.87[JPT][hapmap]
rs9878473	0.87[JPT][hapmap]
rs9879992	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
2	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
3	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:119539000-119576400	Weak transcription	Ovary	ovary
7	chr3:119540400-119574800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:119540400-119576600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:119540800-119577000	Weak transcription	Aorta	Aorta
10	chr3:119541000-119581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:119541200-119587000	Weak transcription	Gastric	stomach
12	chr3:119542400-119581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:119542600-119581600	Weak transcription	HUVEC	blood vessel
14	chr3:119542800-119575000	Weak transcription	Fetal Kidney	kidney
15	chr3:119545000-119576400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:119545200-119575000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:119545200-119575000	Weak transcription	Adipose Nuclei	Adipose
18	chr3:119545200-119575400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:119545200-119583400	Weak transcription	Brain Angular Gyrus	brain
20	chr3:119545800-119576400	Weak transcription	Brain Germinal Matrix	brain
21	chr3:119545800-119581600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:119546000-119569000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:119546000-119571800	Weak transcription	GM12878-XiMat	blood
24	chr3:119546000-119575000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr3:119546000-119576400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:119546000-119663400	Weak transcription	Lung	lung
27	chr3:119546200-119569000	Weak transcription	Placenta	Placenta
28	chr3:119546200-119575000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:119546400-119575200	Weak transcription	Liver	Liver
30	chr3:119546400-119580400	Weak transcription	HepG2	liver
31	chr3:119548600-119576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:119548600-119581600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:119548800-119575000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:119549000-119577200	Weak transcription	Small Intestine	intestine
35	chr3:119549200-119574600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:119549200-119581600	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:119549600-119575200	Weak transcription	Fetal Brain Male	brain
38	chr3:119551200-119576200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:119551200-119576800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:119551400-119594600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:119551800-119580600	Weak transcription	NH-A	brain
42	chr3:119551800-119581400	Weak transcription	Osteobl	bone
43	chr3:119552000-119575000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:119552000-119575600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:119552200-119576400	Weak transcription	A549	lung
46	chr3:119552200-119576600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:119552200-119577000	Weak transcription	HSMMtube	muscle
48	chr3:119552200-119582000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:119554000-119576000	Weak transcription	Fetal Intestine Large	intestine
50	chr3:119555200-119575000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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