Variant report

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

rs_ID	r²[population]
rs1236211	0.83[ASN][1000 genomes]
rs1236212	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1537089	0.91[ASN][1000 genomes]
rs1537090	0.91[ASN][1000 genomes]
rs1539967	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989044	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989045	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989326	0.91[ASN][1000 genomes]
rs2830673	0.89[ASN][1000 genomes]
rs2830679	0.90[ASN][1000 genomes]
rs2830701	0.96[ASN][1000 genomes]
rs2830702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830703	0.97[ASN][1000 genomes]
rs2830713	0.93[ASN][1000 genomes]
rs2830714	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4817156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6417676	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7277343	0.97[ASN][1000 genomes]
rs7277357	0.97[ASN][1000 genomes]
rs928266	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs933153	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996666	0.91[ASN][1000 genomes]
rs996667	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28478000-28480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:28478000-28480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:28478000-28480600	Weak transcription	HSMMtube	muscle
4	chr21:28478000-28480600	Weak transcription	NHEK	skin
5	chr21:28478000-28483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:28478200-28480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28478200-28480600	Weak transcription	NHDF-Ad	bronchial
8	chr21:28478200-28480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:28478200-28483400	Weak transcription	Ovary	ovary
10	chr21:28478200-28483600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr21:28478400-28480400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:28478400-28480600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr21:28478600-28480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:28478800-28480600	Weak transcription	Fetal Kidney	kidney
15	chr21:28479000-28480600	Weak transcription	Osteobl	bone
16	chr21:28479400-28480600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:28479400-28482600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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