Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124528224..124529883-chr12:124531757..124534004,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10846588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10846590	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10846594	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10846595	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10846596	0.96[EUR][1000 genomes]
rs11057416	0.93[EUR][1000 genomes]
rs11057417	0.94[EUR][1000 genomes]
rs11057423	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057424	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057428	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11057432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057435	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057440	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057444	0.96[EUR][1000 genomes]
rs11057445	0.96[EUR][1000 genomes]
rs11057446	0.96[EUR][1000 genomes]
rs11057447	0.84[EUR][1000 genomes]
rs11057449	0.81[EUR][1000 genomes]
rs11611852	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12367007	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1402332	0.94[EUR][1000 genomes]
rs55835646	0.92[EUR][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	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124530600-124539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:124531200-124533200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:124531400-124532000	ZNF genes & repeats	Brain Anterior Caudate	brain
4	chr12:124531800-124532000	ZNF genes & repeats	Gastric	stomach
5	chr12:124531800-124532200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr12:124531800-124532600	ZNF genes & repeats	Fetal Kidney	kidney
7	chr12:124531800-124532800	ZNF genes & repeats	Dnd41	blood

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