Variant report

Variant	rs55670123
Chromosome Location	chr12:60517954-60517955
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11173348	0.90[ASN][1000 genomes]
rs11173363	0.90[ASN][1000 genomes]
rs11173369	0.90[ASN][1000 genomes]
rs11831127	0.90[ASN][1000 genomes]
rs11831587	0.90[ASN][1000 genomes]
rs11832299	0.90[ASN][1000 genomes]
rs11835954	0.90[ASN][1000 genomes]
rs11836045	0.90[ASN][1000 genomes]
rs11837627	0.90[ASN][1000 genomes]
rs12305114	0.89[ASN][1000 genomes]
rs12306523	0.89[ASN][1000 genomes]
rs12578393	0.89[ASN][1000 genomes]
rs12579713	0.90[ASN][1000 genomes]
rs12580881	0.90[ASN][1000 genomes]
rs12581293	0.90[ASN][1000 genomes]
rs12581498	0.89[ASN][1000 genomes]
rs12581979	0.90[ASN][1000 genomes]
rs12582010	0.90[ASN][1000 genomes]
rs3912930	0.89[ASN][1000 genomes]
rs4129725	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55731614	0.89[ASN][1000 genomes]
rs55800300	0.90[ASN][1000 genomes]
rs55810530	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55905809	0.90[ASN][1000 genomes]
rs55941783	0.90[ASN][1000 genomes]
rs56115471	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56150658	0.89[ASN][1000 genomes]
rs56178609	0.90[ASN][1000 genomes]
rs56194985	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56370880	0.89[ASN][1000 genomes]
rs57533761	0.90[ASN][1000 genomes]
rs57848253	0.90[ASN][1000 genomes]
rs58739436	1.00[ASN][1000 genomes]
rs58913061	0.90[ASN][1000 genomes]
rs59474956	0.90[ASN][1000 genomes]
rs60131526	0.89[ASN][1000 genomes]
rs60259520	1.00[ASN][1000 genomes]
rs61561862	0.90[ASN][1000 genomes]
rs7135268	0.89[ASN][1000 genomes]
rs7139265	0.90[ASN][1000 genomes]
rs7306958	0.90[ASN][1000 genomes]
rs7310477	0.90[ASN][1000 genomes]
rs73106125	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106138	0.89[ASN][1000 genomes]
rs73108215	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73108224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73108227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73108230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73108232	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73108233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73108234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73108239	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73108244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73108245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73109750	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73109762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73109768	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73111632	1.00[ASN][1000 genomes]
rs73111634	1.00[ASN][1000 genomes]
rs73111640	1.00[ASN][1000 genomes]
rs73111650	1.00[ASN][1000 genomes]
rs73111657	1.00[ASN][1000 genomes]
rs73111669	0.82[ASN][1000 genomes]
rs73113476	0.90[ASN][1000 genomes]
rs73113496	0.90[ASN][1000 genomes]
rs73113502	0.90[ASN][1000 genomes]
rs73114735	0.90[ASN][1000 genomes]
rs73114791	0.90[ASN][1000 genomes]
rs73115184	0.90[ASN][1000 genomes]
rs73117117	0.90[ASN][1000 genomes]
rs73120658	0.90[ASN][1000 genomes]
rs7314006	0.90[ASN][1000 genomes]
rs73367172	0.89[ASN][1000 genomes]
rs73367179	0.89[ASN][1000 genomes]
rs7960722	0.90[ASN][1000 genomes]
rs867948	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1812349	chr12:60516593-60524969	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60516200-60518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:60516400-60518200	Enhancers	Hela-S3	cervix
3	chr12:60516800-60518200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:60516800-60518200	Enhancers	NHDF-Ad	bronchial
5	chr12:60517800-60523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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