Variant report

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

rs_ID	r²[population]
rs1023405	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1041798	0.88[ASN][1000 genomes]
rs1041799	0.88[ASN][1000 genomes]
rs11910931	0.89[ASN][1000 genomes]
rs12627643	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12710375	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13433452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2039266	0.86[ASN][1000 genomes]
rs2040243	0.85[ASN][1000 genomes]
rs2065250	0.88[ASN][1000 genomes]
rs2065251	0.89[ASN][1000 genomes]
rs2830661	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2830674	0.85[ASN][1000 genomes]
rs2830675	0.85[ASN][1000 genomes]
rs2830677	0.86[ASN][1000 genomes]
rs2830678	0.87[ASN][1000 genomes]
rs2830681	0.86[ASN][1000 genomes]
rs2830682	0.90[ASN][1000 genomes]
rs2830683	0.90[ASN][1000 genomes]
rs28544020	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8127039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8133395	0.85[ASN][1000 genomes]
rs9305300	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9647127	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9974480	0.86[ASN][1000 genomes]
rs9981238	0.84[ASN][1000 genomes]
rs9981850	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9981911	0.85[ASN][1000 genomes]
rs9982753	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9983332	0.86[ASN][1000 genomes]
rs9983430	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28483000-28484800	Enhancers	Fetal Kidney	kidney
2	chr21:28483200-28484800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr21:28483200-28484800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr21:28483600-28484800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr21:28483800-28486000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:28484000-28484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr21:28484000-28484800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:28484000-28484800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:28484000-28485000	Enhancers	NHDF-Ad	bronchial
10	chr21:28484000-28486200	Enhancers	NHEK	skin
11	chr21:28484200-28484800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28484400-28484800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:28484400-28484800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr21:28484400-28485000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:28484600-28485800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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