Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12530951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12532793	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12533063	0.91[EUR][1000 genomes]
rs12538550	0.89[EUR][1000 genomes]
rs1476898	0.91[EUR][1000 genomes]
rs1544594	0.80[ASN][1000 genomes]
rs1860857	0.91[EUR][1000 genomes]
rs1968146	0.91[EUR][1000 genomes]
rs1968147	0.91[EUR][1000 genomes]
rs2430023	0.88[EUR][1000 genomes]
rs2430028	0.90[EUR][1000 genomes]
rs2430031	0.96[ASN][1000 genomes]
rs2430032	0.95[ASN][1000 genomes]
rs2430048	0.98[EUR][1000 genomes]
rs2471181	0.91[EUR][1000 genomes]
rs2471182	0.91[EUR][1000 genomes]
rs2471194	0.97[EUR][1000 genomes]
rs2471202	0.91[EUR][1000 genomes]
rs2471206	0.91[EUR][1000 genomes]
rs3808171	0.84[EUR][1000 genomes]
rs4727944	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73220284	0.89[EUR][1000 genomes]
rs73220288	0.84[EUR][1000 genomes]
rs7793961	0.91[EUR][1000 genomes]
rs7797968	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs986999	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122293600-122318600	Weak transcription	Lung	lung
2	chr7:122294000-122314400	Weak transcription	Fetal Lung	lung
3	chr7:122301400-122315200	Weak transcription	Gastric	stomach
4	chr7:122305400-122312600	Weak transcription	Pancreas	Pancrea
5	chr7:122307000-122308200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:122307000-122308400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:122307000-122313800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:122307600-122308200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:122307600-122308200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:122308000-122308200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:122308000-122308200	Enhancers	Left Ventricle	heart
12	chr7:122308000-122311400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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