Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11701315	0.83[EUR][1000 genomes]
rs12483741	0.81[EUR][1000 genomes]
rs2156296	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2831033	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2831041	0.83[EUR][1000 genomes]
rs2831043	0.83[EUR][1000 genomes]
rs2831044	0.83[EUR][1000 genomes]
rs2831045	0.81[EUR][1000 genomes]
rs2831048	0.83[EUR][1000 genomes]
rs2831049	0.83[EUR][1000 genomes]
rs2831050	0.83[EUR][1000 genomes]
rs2831053	0.83[EUR][1000 genomes]
rs59946294	0.87[EUR][1000 genomes]
rs7275935	0.81[EUR][1000 genomes]
rs73382076	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73384054	0.95[EUR][1000 genomes]
rs73384056	0.89[EUR][1000 genomes]
rs73384059	0.83[EUR][1000 genomes]
rs73384066	0.82[EUR][1000 genomes]
rs73384078	0.83[EUR][1000 genomes]
rs73384086	0.81[EUR][1000 genomes]
rs928273	0.83[EUR][1000 genomes]
rs9636797	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28970400-29018000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:28996200-29008800	Weak transcription	HSMMtube	muscle
3	chr21:29002000-29003400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:29002200-29002400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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