Variant report

Variant	rs56370880
Chromosome Location	chr12:60471600-60471601
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60465097..60467873-chr12:60470417..60472937,3	MCF-7	breast:
2	chr12:60468174..60469728-chr12:60471025..60473459,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11173348	1.00[AMR][1000 genomes]
rs11173363	1.00[AMR][1000 genomes]
rs11173369	1.00[AMR][1000 genomes]
rs11831127	1.00[AMR][1000 genomes]
rs11832299	1.00[AMR][1000 genomes]
rs11835954	1.00[AMR][1000 genomes]
rs11836045	1.00[AMR][1000 genomes]
rs11837627	1.00[AMR][1000 genomes]
rs12305114	1.00[ASN][1000 genomes]
rs12306523	1.00[ASN][1000 genomes]
rs12578393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579713	1.00[AMR][1000 genomes]
rs12580881	1.00[AMR][1000 genomes]
rs12581293	1.00[AMR][1000 genomes]
rs12581498	1.00[ASN][1000 genomes]
rs12581979	1.00[AMR][1000 genomes]
rs12582010	1.00[AMR][1000 genomes]
rs3912930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55670123	0.89[ASN][1000 genomes]
rs55731614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800300	1.00[AMR][1000 genomes]
rs55810530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55905809	1.00[AMR][1000 genomes]
rs55941783	1.00[AMR][1000 genomes]
rs56150658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57533761	1.00[AMR][1000 genomes]
rs57848253	1.00[AMR][1000 genomes]
rs58246390	1.00[ASN][1000 genomes]
rs58739436	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59474956	1.00[AMR][1000 genomes]
rs60131526	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60259520	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7135268	1.00[ASN][1000 genomes]
rs7306958	1.00[AMR][1000 genomes]
rs7310477	1.00[AMR][1000 genomes]
rs73106125	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73106138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73106200	1.00[EUR][1000 genomes]
rs73108215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73108224	0.89[ASN][1000 genomes]
rs73108227	0.89[ASN][1000 genomes]
rs73108230	0.89[ASN][1000 genomes]
rs73108233	0.89[ASN][1000 genomes]
rs73108234	0.89[ASN][1000 genomes]
rs73108239	0.89[ASN][1000 genomes]
rs73108244	0.89[ASN][1000 genomes]
rs73108245	0.89[ASN][1000 genomes]
rs73109750	0.89[ASN][1000 genomes]
rs73109762	0.89[ASN][1000 genomes]
rs73109768	0.89[ASN][1000 genomes]
rs73111632	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73111634	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73111640	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73111650	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73111657	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73111669	1.00[AMR][1000 genomes]
rs73113476	1.00[AMR][1000 genomes]
rs73113496	1.00[AMR][1000 genomes]
rs73113502	1.00[AMR][1000 genomes]
rs73114735	1.00[AMR][1000 genomes]
rs73114791	1.00[AMR][1000 genomes]
rs73115184	1.00[AMR][1000 genomes]
rs73117117	1.00[AMR][1000 genomes]
rs73121558	1.00[EUR][1000 genomes]
rs7314006	1.00[AMR][1000 genomes]
rs73356679	0.89[ASN][1000 genomes]
rs73356698	1.00[ASN][1000 genomes]
rs73367172	1.00[ASN][1000 genomes]
rs73367179	1.00[ASN][1000 genomes]
rs7960722	1.00[AMR][1000 genomes]
rs867948	1.00[AMR][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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899136	chr12:60373244-60483607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv559103	chr12:60383069-60483607	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048137	chr12:60432594-60515455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60467000-60475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60467600-60471800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:60471400-60471800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:60471400-60473000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:60471600-60473000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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