Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185518755..185520867-chr1:185527549..185529971,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs168004	0.84[EUR][1000 genomes]
rs186732	0.85[EUR][1000 genomes]
rs193088	0.83[EUR][1000 genomes]
rs2756198	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2756209	0.85[EUR][1000 genomes]
rs2821436	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2842591	0.85[EUR][1000 genomes]
rs333704	0.90[CHD][hapmap];0.85[EUR][1000 genomes]
rs333705	0.86[EUR][1000 genomes]
rs333706	0.81[EUR][1000 genomes]
rs333708	0.83[EUR][1000 genomes]
rs333711	0.85[EUR][1000 genomes]
rs333712	0.85[EUR][1000 genomes]
rs333713	0.85[EUR][1000 genomes]
rs333718	0.85[EUR][1000 genomes]
rs333724	0.84[EUR][1000 genomes]
rs333726	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs333728	0.84[EUR][1000 genomes]
rs492436	0.85[EUR][1000 genomes]
rs494700	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs495416	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs506429	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs507076	0.83[EUR][1000 genomes]
rs516040	0.97[CHD][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs518472	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs521481	0.86[EUR][1000 genomes]
rs531472	0.87[CHD][hapmap];0.84[EUR][1000 genomes]
rs545105	0.81[EUR][1000 genomes]
rs553452	0.86[EUR][1000 genomes]
rs567021	0.85[EUR][1000 genomes]
rs567846	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv947556	chr1:185515946-185523530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185519400-185520600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:185519400-185520600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:185519800-185521000	Enhancers	Placenta	Placenta
4	chr1:185520200-185520600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:185520200-185520600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:185520200-185520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:185520200-185520800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:185520200-185520800	Enhancers	Adipose Nuclei	Adipose
9	chr1:185520200-185520800	Enhancers	Gastric	stomach
10	chr1:185520200-185521000	Enhancers	Pancreas	Pancrea

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