Variant report

Variant	rs12195347
Chromosome Location	chr6:81225263-81225264
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10447325	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10447326	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10806194	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10943717	0.87[AFR][1000 genomes]
rs10943720	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11964999	0.81[ASN][1000 genomes]
rs12195284	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12200933	0.82[AFR][1000 genomes]
rs12207977	0.88[ASN][1000 genomes]
rs13203786	0.88[ASN][1000 genomes]
rs2168103	0.88[EUR][1000 genomes]
rs2247639	0.81[EUR][1000 genomes]
rs2322841	0.86[AFR][1000 genomes]
rs2322842	0.96[EUR][1000 genomes]
rs2322843	0.96[EUR][1000 genomes]
rs2603458	0.90[EUR][1000 genomes]
rs2653484	0.90[EUR][1000 genomes]
rs28360539	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28789711	0.83[EUR][1000 genomes]
rs2917600	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4315973	0.84[EUR][1000 genomes]
rs4394171	0.96[EUR][1000 genomes]
rs4410688	0.96[EUR][1000 genomes]
rs4527663	0.84[EUR][1000 genomes]
rs471335	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs480295	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs541037	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs541841	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546848	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs549621	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs577203	0.82[EUR][1000 genomes]
rs62406533	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs667882	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs683706	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6933382	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6936716	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs722715	0.86[EUR][1000 genomes]
rs9449074	0.91[EUR][1000 genomes]
rs953498	0.96[EUR][1000 genomes]
rs953499	0.96[EUR][1000 genomes]
rs953500	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv886311	chr6:81166178-81239971	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv886312	chr6:81166178-81309481	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv886313	chr6:81177227-81239971	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81224200-81226000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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