Variant report

Variant	rs7313388
Chromosome Location	chr12:86074687-86074688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10863013	0.87[ASN][1000 genomes]
rs10863014	0.87[ASN][1000 genomes]
rs10863024	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10863025	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863030	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863051	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11116861	0.87[ASN][1000 genomes]
rs11116866	0.87[ASN][1000 genomes]
rs11116867	0.87[ASN][1000 genomes]
rs11116868	0.87[ASN][1000 genomes]
rs11116869	0.87[ASN][1000 genomes]
rs11116870	0.87[ASN][1000 genomes]
rs11116874	0.87[ASN][1000 genomes]
rs11116875	0.87[ASN][1000 genomes]
rs11116876	0.87[ASN][1000 genomes]
rs11116880	0.87[ASN][1000 genomes]
rs11116881	0.87[ASN][1000 genomes]
rs11116882	0.87[ASN][1000 genomes]
rs11116884	0.87[ASN][1000 genomes]
rs11116885	0.87[ASN][1000 genomes]
rs11116887	0.87[ASN][1000 genomes]
rs11116889	0.87[ASN][1000 genomes]
rs11116890	0.87[ASN][1000 genomes]
rs11116892	0.87[ASN][1000 genomes]
rs11116895	0.87[ASN][1000 genomes]
rs11116896	0.87[ASN][1000 genomes]
rs11116898	0.87[ASN][1000 genomes]
rs11116899	0.87[ASN][1000 genomes]
rs11116920	0.87[ASN][1000 genomes]
rs11116932	0.90[ASN][1000 genomes]
rs11116936	0.94[ASN][1000 genomes]
rs11116938	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11116944	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11116950	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11116970	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11116973	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11116977	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11513953	0.87[ASN][1000 genomes]
rs11832292	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833053	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11835255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12227817	0.87[ASN][1000 genomes]
rs12228112	0.87[ASN][1000 genomes]
rs12228412	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12228703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231153	0.87[ASN][1000 genomes]
rs12231156	0.87[ASN][1000 genomes]
rs12231815	0.87[ASN][1000 genomes]
rs12231930	0.87[ASN][1000 genomes]
rs12308539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564123	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17013154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405253	0.92[ASN][1000 genomes]
rs34506479	0.97[ASN][1000 genomes]
rs3884595	0.87[ASN][1000 genomes]
rs4143507	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4409917	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4554972	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55827526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897445	0.87[ASN][1000 genomes]
rs57527697	0.87[ASN][1000 genomes]
rs57608040	0.87[ASN][1000 genomes]
rs57741929	0.87[ASN][1000 genomes]
rs58809157	0.87[ASN][1000 genomes]
rs59312748	0.87[ASN][1000 genomes]
rs59403304	0.87[ASN][1000 genomes]
rs59788521	0.87[ASN][1000 genomes]
rs60202749	0.87[ASN][1000 genomes]
rs60683378	0.87[ASN][1000 genomes]
rs6539908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131964	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137284	0.87[ASN][1000 genomes]
rs7304792	0.87[ASN][1000 genomes]
rs73367235	0.87[ASN][1000 genomes]
rs73367237	0.87[ASN][1000 genomes]
rs73367241	0.87[ASN][1000 genomes]
rs73367246	0.87[ASN][1000 genomes]
rs73367251	0.87[ASN][1000 genomes]
rs73367261	0.87[ASN][1000 genomes]
rs73367266	0.87[ASN][1000 genomes]
rs73367273	0.87[ASN][1000 genomes]
rs73368476	0.87[ASN][1000 genomes]
rs73368490	0.87[ASN][1000 genomes]
rs73368493	0.87[ASN][1000 genomes]
rs73370465	0.86[ASN][1000 genomes]
rs74112222	0.87[ASN][1000 genomes]
rs74112251	0.87[ASN][1000 genomes]
rs74112259	0.87[ASN][1000 genomes]
rs74112289	0.87[ASN][1000 genomes]
rs74112507	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7484736	0.87[ASN][1000 genomes]
rs7485150	0.87[ASN][1000 genomes]
rs7485219	0.86[ASN][1000 genomes]
rs7486870	0.87[ASN][1000 genomes]
rs7486887	0.87[ASN][1000 genomes]
rs7486989	0.87[ASN][1000 genomes]
rs7489034	0.87[ASN][1000 genomes]
rs7972133	0.87[ASN][1000 genomes]
rs7977072	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs922340	0.97[ASN][1000 genomes]
rs9943733	0.87[ASN][1000 genomes]
rs9943736	0.86[ASN][1000 genomes]
rs9943770	0.87[ASN][1000 genomes]
rs9943779	0.87[ASN][1000 genomes]
rs9989016	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9989038	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2751125	chr12:85884858-86098240	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043253	chr12:85888151-86125364	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1054475	chr12:85985510-86175711	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv541561	chr12:85985510-86175711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1042467	chr12:86017619-86078149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv983473	chr12:86055107-86079111	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
11	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86074000-86075600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:86074200-86075000	Enhancers	Esophagus	oesophagus
3	chr12:86074400-86075400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:86074600-86075200	ZNF genes & repeats	HMEC	breast

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