Variant report

Variant	rs12611839
Chromosome Location	chr2:56879438-56879439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10164491	0.86[EUR][1000 genomes]
rs1016542	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10187925	0.85[EUR][1000 genomes]
rs10190939	0.84[EUR][1000 genomes]
rs13389774	0.83[EUR][1000 genomes]
rs13403703	0.85[EUR][1000 genomes]
rs13411277	0.83[EUR][1000 genomes]
rs13418332	0.81[ASN][1000 genomes]
rs17048231	0.82[ASN][1000 genomes]
rs17048326	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17048328	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2042119	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042120	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2112026	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2112027	0.84[ASN][1000 genomes]
rs2870077	0.88[EUR][1000 genomes]
rs3948576	0.86[EUR][1000 genomes]
rs4566401	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55786755	0.81[ASN][1000 genomes]
rs56125384	0.81[ASN][1000 genomes]
rs57457595	0.86[EUR][1000 genomes]
rs57624751	0.81[ASN][1000 genomes]
rs58139318	0.81[ASN][1000 genomes]
rs59647856	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60442457	0.81[ASN][1000 genomes]
rs60639564	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60966744	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62160717	0.82[ASN][1000 genomes]
rs62160718	0.82[ASN][1000 genomes]
rs62161431	0.86[EUR][1000 genomes]
rs62161433	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62161434	0.86[EUR][1000 genomes]
rs62161435	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62161436	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62162355	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6545582	0.80[EUR][1000 genomes]
rs66532230	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6728372	0.88[EUR][1000 genomes]
rs6742821	0.81[EUR][1000 genomes]
rs6745039	0.82[ASN][1000 genomes]
rs6757997	0.88[EUR][1000 genomes]
rs68044837	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68152617	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs965946	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv582051	chr2:56706758-56902709	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005547	chr2:56751574-56887287	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1012596	chr2:56761303-56916336	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv535725	chr2:56761303-56916336	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1008859	chr2:56767452-57126026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv535726	chr2:56767452-57126026	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1009860	chr2:56768276-56896971	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv874179	chr2:56817927-56957466	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv874180	chr2:56822558-56957466	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56879000-56879800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:56879200-56879600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:56879400-56879600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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