Variant report

Variant	rs12429317
Chromosome Location	chr13:62962895-62962896
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12428082	1.00[EUR][1000 genomes]
rs12428375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12428560	0.89[EUR][1000 genomes]
rs12429390	1.00[EUR][1000 genomes]
rs12429397	1.00[EUR][1000 genomes]
rs12429424	1.00[EUR][1000 genomes]
rs12431026	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431035	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431064	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12860163	0.80[EUR][1000 genomes]
rs12862055	0.92[EUR][1000 genomes]
rs12864625	0.92[EUR][1000 genomes]
rs12867188	0.89[EUR][1000 genomes]
rs12870231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12870258	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12870727	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12870826	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12870935	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12870965	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12871366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12871694	0.92[EUR][1000 genomes]
rs12872004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12875690	0.87[EUR][1000 genomes]
rs12875940	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12876207	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12876281	0.97[EUR][1000 genomes]
rs12876343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12876465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12876620	0.99[EUR][1000 genomes]
rs12876700	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12876997	1.00[EUR][1000 genomes]
rs12877105	1.00[EUR][1000 genomes]
rs12877223	1.00[EUR][1000 genomes]
rs12877330	1.00[EUR][1000 genomes]
rs1336141	0.89[EUR][1000 genomes]
rs17061308	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17298039	1.00[EUR][1000 genomes]
rs34824349	0.89[EUR][1000 genomes]
rs34909131	0.95[EUR][1000 genomes]
rs35185476	0.95[EUR][1000 genomes]
rs35491594	0.95[EUR][1000 genomes]
rs35869046	0.91[EUR][1000 genomes]
rs4438182	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4883682	1.00[EUR][1000 genomes]
rs4884420	1.00[EUR][1000 genomes]
rs4884421	1.00[EUR][1000 genomes]
rs4884422	1.00[EUR][1000 genomes]
rs4884423	1.00[EUR][1000 genomes]
rs71439933	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71439935	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71439947	0.99[EUR][1000 genomes]
rs71439948	0.99[EUR][1000 genomes]
rs71439955	0.91[EUR][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	nsv948810	chr13:62003256-62968196	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1038992	chr13:62827929-63369497	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541795	chr13:62827929-63369497	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1038215	chr13:62836702-63405446	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1039461	chr13:62938034-62963588	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv561894	chr13:62952228-63013622	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv275288	chr13:62961967-62967176	Active TSS Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62962600-62963000	Enhancers	HUES48 Cell Line	embryonic stem cell

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