Variant report

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10428025	0.96[EUR][1000 genomes]
rs11914198	1.00[EUR][1000 genomes]
rs12170920	0.96[EUR][1000 genomes]
rs55674628	0.91[EUR][1000 genomes]
rs56173866	1.00[EUR][1000 genomes]
rs5749115	0.96[EUR][1000 genomes]
rs5749117	0.96[EUR][1000 genomes]
rs5753180	0.96[EUR][1000 genomes]
rs5753181	0.96[EUR][1000 genomes]
rs58750696	0.85[EUR][1000 genomes]
rs59041044	0.87[EUR][1000 genomes]
rs59571413	0.92[EUR][1000 genomes]
rs5997681	1.00[EUR][1000 genomes]
rs60874034	0.96[EUR][1000 genomes]
rs61062709	1.00[EUR][1000 genomes]
rs61154368	0.96[EUR][1000 genomes]
rs61739203	0.91[EUR][1000 genomes]
rs61742115	1.00[EUR][1000 genomes]
rs61744139	0.96[EUR][1000 genomes]
rs61746412	0.96[EUR][1000 genomes]
rs7286285	0.84[EUR][1000 genomes]
rs7286703	0.91[EUR][1000 genomes]
rs7287647	1.00[EUR][1000 genomes]
rs7289242	1.00[EUR][1000 genomes]
rs7289280	1.00[EUR][1000 genomes]
rs7289848	0.96[EUR][1000 genomes]
rs7290074	1.00[EUR][1000 genomes]
rs7292475	1.00[EUR][1000 genomes]
rs73394239	1.00[EUR][1000 genomes]
rs8135119	0.91[EUR][1000 genomes]
rs8135296	1.00[EUR][1000 genomes]
rs8138975	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30939000-30949800	Weak transcription	Brain Angular Gyrus	brain
2	chr22:30939000-30950800	Weak transcription	Pancreas	Pancrea
3	chr22:30939000-30951400	Weak transcription	Ovary	ovary
4	chr22:30939000-30962000	Weak transcription	Liver	Liver
5	chr22:30939200-30949800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:30939200-30951000	Weak transcription	Brain Substantia Nigra	brain
7	chr22:30939200-30951000	Weak transcription	Gastric	stomach
8	chr22:30939400-30950200	Weak transcription	Brain Anterior Caudate	brain
9	chr22:30940000-30942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:30942200-30949000	Weak transcription	Fetal Intestine Small	intestine
11	chr22:30942400-30943000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:30942600-30943000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:30942600-30943000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:30942600-30943000	Enhancers	HMEC	breast
15	chr22:30942600-30943200	Enhancers	NHEK	skin
16	chr22:30942600-30943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:30942600-30943400	Enhancers	Placenta	Placenta

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