Variant report

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

rs_ID	r²[population]
rs11162003	0.83[AFR][1000 genomes]
rs11162047	0.83[EUR][1000 genomes]
rs11162048	0.83[EUR][1000 genomes]
rs12068611	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068640	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12080932	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12084381	1.00[AFR][1000 genomes]
rs12084383	0.83[AFR][1000 genomes]
rs12086384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087619	1.00[AFR][1000 genomes]
rs12091251	0.83[EUR][1000 genomes]
rs12239656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251535	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1251536	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1251540	0.89[EUR][1000 genomes]
rs17097754	1.00[AFR][1000 genomes]
rs17097857	0.83[EUR][1000 genomes]
rs2066214	0.82[AFR][1000 genomes]
rs6696414	1.00[AFR][1000 genomes]
rs9943136	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:76429400-76430800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:76429600-76430800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:76430000-76430800	Enhancers	NH-A	brain
4	chr1:76430000-76430800	Enhancers	NHEK	skin
5	chr1:76430200-76430600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:76430200-76430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:76430200-76430800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:76430200-76430800	Enhancers	Osteobl	bone
9	chr1:76430400-76430600	Active TSS	A549	lung
10	chr1:76430400-76430800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:76430400-76430800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:76430400-76430800	Enhancers	HMEC	breast

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