Variant report

Variant	rs28393394
Chromosome Location	chr7:69381451-69381452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1000874	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10081305	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10085600	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10156142	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1017113	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10215914	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10216097	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10216186	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228786	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10229336	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10229578	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10229588	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10230356	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10230750	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10233869	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10234121	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10235098	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10238049	0.85[EUR][1000 genomes]
rs10239569	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10240462	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10242206	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10243408	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244001	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244128	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244247	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244885	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245690	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245749	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10247386	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10248237	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10248401	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10251433	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10254086	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10254871	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10255563	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10256512	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10257587	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10258846	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10259028	0.94[EUR][1000 genomes]
rs10262102	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10263467	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10266802	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10268729	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10269267	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10272781	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10274099	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10274419	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10275112	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10275721	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276322	0.94[EUR][1000 genomes]
rs10278001	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10278978	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10279669	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10279708	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10281537	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10452705	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10452739	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10487943	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950193	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762049	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11762487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11763426	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11764277	0.85[EUR][1000 genomes]
rs11764397	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11764717	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764911	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11766980	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11768151	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11769033	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11769390	0.94[EUR][1000 genomes]
rs11769738	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770241	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770695	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11771751	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771768	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11771899	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11772602	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11975481	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11975506	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11979745	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12333653	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13362851	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13362865	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13437638	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17140783	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17140817	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140884	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17140938	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141168	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17141181	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141191	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141193	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17353920	0.81[EUR][1000 genomes]
rs17361825	0.87[EUR][1000 genomes]
rs17457910	0.81[EUR][1000 genomes]
rs17458713	0.81[EUR][1000 genomes]
rs2052124	0.81[EUR][1000 genomes]
rs2068718	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28433534	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28489338	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28496072	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28502437	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28577243	0.85[EUR][1000 genomes]
rs28582872	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28630917	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28657792	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2865804	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28812289	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28864527	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34080361	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800979	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41379648	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4305786	0.85[EUR][1000 genomes]
rs4364526	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4557583	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55654955	0.85[EUR][1000 genomes]
rs55756263	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55880824	0.85[EUR][1000 genomes]
rs56405888	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56999082	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57493471	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58626042	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58666988	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58863846	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61370051	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61424317	0.85[EUR][1000 genomes]
rs6460525	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6944701	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6945524	0.81[EUR][1000 genomes]
rs6947326	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948174	0.94[EUR][1000 genomes]
rs6958450	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958714	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961682	0.94[EUR][1000 genomes]
rs6962237	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6962338	0.81[EUR][1000 genomes]
rs6967512	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6967788	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6968426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976263	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6978818	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980305	0.90[ASN][1000 genomes]
rs719294	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154605	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73160193	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73164795	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73166559	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73168739	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168740	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168758	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170834	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73170852	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73170857	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73170864	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73172903	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs740946	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7777243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777269	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7777621	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7780835	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7781664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784950	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7797662	0.84[EUR][1000 genomes]
rs7798890	0.85[EUR][1000 genomes]
rs7801209	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7805165	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7806413	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs917718	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs917725	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9690738	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9690769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69377000-69391000	Weak transcription	Fetal Lung	lung
2	chr7:69377200-69383400	Weak transcription	Brain Germinal Matrix	brain
3	chr7:69377200-69392400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:69377400-69383200	Weak transcription	Fetal Intestine Small	intestine
5	chr7:69377800-69402000	Weak transcription	Ovary	ovary
6	chr7:69378000-69385600	Weak transcription	Fetal Kidney	kidney
7	chr7:69378000-69387200	Weak transcription	Fetal Brain Female	brain
8	chr7:69378800-69383400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:69379800-69383800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:69379800-69392800	Weak transcription	Fetal Brain Male	brain
11	chr7:69380200-69396000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:69380800-69381600	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:69381000-69382000	Enhancers	Dnd41	blood
14	chr7:69381400-69381800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:69381400-69381800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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