Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:120683109..120686039-chr11:120687906..120690836,2	K562	blood:
2	chr11:120689816..120692412-chr11:120693734..120696623,3	K562	blood:
3	chr11:120679595..120682916-chr11:120688352..120691121,3	MCF-7	breast:
4	chr11:120689710..120692141-chr11:120780023..120782059,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11218009	1.00[EUR][1000 genomes]
rs11218020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11218033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11501142	1.00[EUR][1000 genomes]
rs11822985	1.00[EUR][1000 genomes]
rs12270392	1.00[EUR][1000 genomes]
rs12275938	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12278293	1.00[EUR][1000 genomes]
rs12278548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279279	1.00[EUR][1000 genomes]
rs12279371	1.00[EUR][1000 genomes]
rs12285831	1.00[EUR][1000 genomes]
rs12286020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289919	1.00[EUR][1000 genomes]
rs12290599	1.00[EUR][1000 genomes]
rs12291509	1.00[EUR][1000 genomes]
rs12291645	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294917	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124355	1.00[EUR][1000 genomes]
rs57090447	1.00[EUR][1000 genomes]
rs58190380	1.00[EUR][1000 genomes]
rs61512619	1.00[EUR][1000 genomes]
rs7114795	1.00[EUR][1000 genomes]
rs73578576	1.00[EUR][1000 genomes]
rs73578585	1.00[EUR][1000 genomes]
rs73580678	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580685	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938287	1.00[EUR][1000 genomes]
rs7948126	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120674000-120696000	Weak transcription	Fetal Lung	lung
2	chr11:120680200-120695000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:120684000-120707600	Weak transcription	Ovary	ovary
4	chr11:120687200-120690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120688200-120690200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:120688200-120699800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:120688400-120690600	Weak transcription	Fetal Brain Male	brain
8	chr11:120688400-120695200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:120688600-120690400	Weak transcription	Adipose Nuclei	Adipose
10	chr11:120688600-120698400	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:120689600-120690200	Weak transcription	Brain Substantia Nigra	brain
12	chr11:120689800-120690400	Enhancers	Brain Anterior Caudate	brain
13	chr11:120689800-120690400	Enhancers	Placenta	Placenta
14	chr11:120690000-120690200	Enhancers	Fetal Brain Female	brain
15	chr11:120690000-120691400	Enhancers	HepG2	liver
16	chr11:120690000-120691600	Enhancers	Cortex derived primary cultured neurospheres	brain

Quick Search: