Variant report

Variant	rs10950193
Chromosome Location	chr7:69365414-69365415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs1000874	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10081305	0.82[EUR][1000 genomes]
rs10085600	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10156142	0.88[EUR][1000 genomes]
rs1017113	0.91[EUR][1000 genomes]
rs10215914	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10216097	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10216186	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228786	0.88[EUR][1000 genomes]
rs10229336	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10229578	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10229588	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10230356	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10230750	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10233869	0.85[EUR][1000 genomes]
rs10234121	0.91[EUR][1000 genomes]
rs10234831	0.82[EUR][1000 genomes]
rs10235098	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10238049	0.82[EUR][1000 genomes]
rs10239569	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10240462	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10242206	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10243408	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244001	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244128	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244247	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244885	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245690	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245749	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10247386	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10248237	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10248401	0.88[EUR][1000 genomes]
rs10254086	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10254871	0.88[EUR][1000 genomes]
rs10255563	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10256512	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10257587	0.85[EUR][1000 genomes]
rs10258846	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10259028	0.91[EUR][1000 genomes]
rs10262102	0.88[EUR][1000 genomes]
rs10263467	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10266802	0.91[EUR][1000 genomes]
rs10268729	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10269267	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10272781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10274099	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10274419	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10275112	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10275721	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276322	0.91[EUR][1000 genomes]
rs10278001	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10278978	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10279669	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10279708	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10281537	0.88[EUR][1000 genomes]
rs10452705	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10452739	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10487943	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11762049	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11762487	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11763426	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11764277	0.88[EUR][1000 genomes]
rs11764397	0.88[EUR][1000 genomes]
rs11764717	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764911	0.91[EUR][1000 genomes]
rs11766980	0.91[EUR][1000 genomes]
rs11768151	0.91[EUR][1000 genomes]
rs11769033	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11769390	0.91[EUR][1000 genomes]
rs11769738	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770695	0.91[EUR][1000 genomes]
rs11771751	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771768	0.91[EUR][1000 genomes]
rs11771899	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11772602	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11975481	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11975506	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11979745	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12333653	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13362851	0.87[ASN][1000 genomes]
rs13362865	0.87[ASN][1000 genomes]
rs13437638	0.88[EUR][1000 genomes]
rs17140755	0.85[EUR][1000 genomes]
rs17140759	0.85[EUR][1000 genomes]
rs17140783	0.85[EUR][1000 genomes]
rs17140817	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140884	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17140938	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141032	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141168	0.91[EUR][1000 genomes]
rs17141181	0.88[EUR][1000 genomes]
rs17141191	0.88[EUR][1000 genomes]
rs17141193	0.88[EUR][1000 genomes]
rs17361825	0.85[EUR][1000 genomes]
rs17457910	1.00[CEU][hapmap]
rs2068718	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28393394	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433534	0.88[EUR][1000 genomes]
rs28489338	0.88[EUR][1000 genomes]
rs28493290	0.85[EUR][1000 genomes]
rs28496072	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28502437	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28577243	0.88[EUR][1000 genomes]
rs28630917	0.91[EUR][1000 genomes]
rs28657792	0.88[EUR][1000 genomes]
rs2865804	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28812289	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28864527	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34080361	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800979	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41379648	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4305786	0.88[EUR][1000 genomes]
rs4364526	0.82[EUR][1000 genomes]
rs4557583	0.88[EUR][1000 genomes]
rs55654955	0.88[EUR][1000 genomes]
rs55756263	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55880824	0.88[EUR][1000 genomes]
rs56405888	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56999082	0.88[EUR][1000 genomes]
rs57493471	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58626042	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58666988	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58863846	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61370051	0.95[ASN][1000 genomes]
rs61424317	0.88[EUR][1000 genomes]
rs6460525	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6947326	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948174	0.91[EUR][1000 genomes]
rs6951770	0.88[EUR][1000 genomes]
rs6958450	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958714	0.97[EUR][1000 genomes]
rs6961682	0.91[EUR][1000 genomes]
rs6962237	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6967512	0.82[EUR][1000 genomes]
rs6967788	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6968426	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975211	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6978818	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980305	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs719294	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154605	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73160193	0.88[EUR][1000 genomes]
rs73164795	0.85[EUR][1000 genomes]
rs73166559	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73168739	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168740	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168747	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168758	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170834	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73170852	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73170857	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73170864	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73172903	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs740946	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7777243	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777269	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7777621	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7780835	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7781664	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784950	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7797662	0.82[EUR][1000 genomes]
rs7798890	0.82[EUR][1000 genomes]
rs7801209	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7805165	0.88[EUR][1000 genomes]
rs7806413	0.82[EUR][1000 genomes]
rs7810982	0.88[EUR][1000 genomes]
rs917718	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs917725	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9690738	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9690769	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1017390	chr7:69339404-69406232	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv538920	chr7:69339404-69406232	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69338400-69367200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:69351200-69375400	Weak transcription	Fetal Stomach	stomach
4	chr7:69355200-69366800	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:69355400-69368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:69355400-69370600	Weak transcription	Fetal Brain Female	brain
7	chr7:69355400-69371200	Weak transcription	Brain Anterior Caudate	brain
8	chr7:69355400-69372000	Weak transcription	Adipose Nuclei	Adipose
9	chr7:69355400-69376600	Weak transcription	Ovary	ovary
10	chr7:69359000-69371400	Weak transcription	Brain Germinal Matrix	brain
11	chr7:69359000-69372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:69360600-69371400	Enhancers	Dnd41	blood
13	chr7:69361400-69367800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:69361400-69368000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:69361400-69371200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:69361400-69371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:69361400-69373200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:69361600-69366600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:69361600-69368000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:69361600-69371200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:69362000-69373000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:69363600-69367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:69363800-69366000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:69364000-69366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:69364200-69366800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:69365000-69366600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:69365000-69366800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:69365000-69371200	Weak transcription	Fetal Thymus	thymus
29	chr7:69365200-69365800	Enhancers	Fetal Intestine Small	intestine
30	chr7:69365200-69370200	Weak transcription	GM12878-XiMat	blood

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