Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12980989..12983402-chr6:13027140..13029769,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11755825	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11756003	0.90[EUR][1000 genomes]
rs11759412	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13194360	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34175679	0.88[EUR][1000 genomes]
rs35266083	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35713382	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36049381	0.88[EUR][1000 genomes]
rs4236093	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4588689	0.87[EUR][1000 genomes]
rs4711897	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4715045	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62386820	0.89[EUR][1000 genomes]
rs62386821	0.88[EUR][1000 genomes]
rs66820937	0.90[EUR][1000 genomes]
rs6906017	0.94[EUR][1000 genomes]
rs6906890	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6929107	0.93[EUR][1000 genomes]
rs7775710	0.94[EUR][1000 genomes]
rs9473086	0.90[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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12964000-12988000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:12974400-12986800	Weak transcription	Lung	lung
3	chr6:12976000-12990200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:12977600-12986600	Weak transcription	Aorta	Aorta
5	chr6:12978800-12987800	Weak transcription	Left Ventricle	heart
6	chr6:12979000-12986800	Weak transcription	Right Ventricle	heart
7	chr6:12979600-13001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:12980600-12986600	Weak transcription	Brain Anterior Caudate	brain
9	chr6:12981200-12982600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:12981200-12982800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr6:12982200-12982600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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