Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60240866..60243089-chr12:60312800..60315129,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10783997	0.92[EUR][1000 genomes]
rs10877330	0.80[CEU][hapmap]
rs10877332	0.83[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs10877333	0.80[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs10877334	1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs11173121	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs11173138	0.82[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs11173183	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173186	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11611304	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11611808	0.92[EUR][1000 genomes]
rs12581981	0.92[EUR][1000 genomes]
rs17572569	0.94[EUR][1000 genomes]
rs17573052	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17650140	0.83[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs4323908	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55863604	0.94[EUR][1000 genomes]
rs55869967	0.94[EUR][1000 genomes]
rs56410712	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73113308	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73115337	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7972065	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr12:60239200-60243800	Weak transcription	HUVEC	blood vessel
2	chr12:60240400-60242200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:60240600-60243000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:60241600-60242200	Enhancers	HMEC	breast
5	chr12:60241800-60242200	Enhancers	Pancreas	Pancrea

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