Variant report

Variant	rs12194958
Chromosome Location	chr6:141398280-141398281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11155148	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11155154	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11155155	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12191326	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12211476	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12215782	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12525884	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12529286	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12529918	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13194755	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1386996	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1488529	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1488530	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1819631	0.83[ASN][1000 genomes]
rs1819633	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1832446	0.92[ASN][1000 genomes]
rs1856375	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2018511	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2328154	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2328159	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2328186	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2931797	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3011891	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35179547	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35610266	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4364500	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4370381	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4394231	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6905547	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7749385	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7753049	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9321798	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376576	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9385927	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9385932	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9389842	0.88[ASN][1000 genomes]
rs9389848	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389851	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9389871	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9403244	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9403245	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs961904	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs999034	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs999035	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026042	chr6:140813667-141414842	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv869287	chr6:140826709-141407102	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1019459	chr6:141051249-141862727	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538453	chr6:141051249-141862727	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv532070	chr6:141057326-141865359	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025922	chr6:141090901-141865360	Weak transcription Enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
7	nsv538454	chr6:141090901-141865360	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1028540	chr6:141121435-141740831	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv604780	chr6:141126080-141740918	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1033387	chr6:141130072-141742682	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1030686	chr6:141130072-141749079	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1024981	chr6:141134064-141742682	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv916684	chr6:141149976-141682411	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv532071	chr6:141150099-141682503	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1035133	chr6:141156919-141650334	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1029033	chr6:141156919-141740831	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv886720	chr6:141328865-141725335	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv886721	chr6:141328865-141739208	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv886722	chr6:141345649-141457362	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1029550	chr6:141372610-142029669	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv830822	chr6:141387803-141542998	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141395400-141398800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:141398200-141398800	Enhancers	Pancreas	Pancrea
3	chr6:141398200-141398800	Flanking Active TSS	HepG2	liver
4	chr6:141398200-141399400	Enhancers	Ovary	ovary

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