Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10222074	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12329903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627068	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12627643	0.84[ASN][1000 genomes]
rs1888429	0.81[ASN][1000 genomes]
rs2088379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233589	1.00[ASN][1000 genomes]
rs233591	1.00[ASN][1000 genomes]
rs233592	1.00[ASN][1000 genomes]
rs233596	1.00[ASN][1000 genomes]
rs2830635	0.92[EUR][1000 genomes]
rs2830657	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2830661	0.87[ASN][1000 genomes]
rs28479869	0.88[EUR][1000 genomes]
rs28544020	0.82[ASN][1000 genomes]
rs28597803	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34676567	0.92[EUR][1000 genomes]
rs7276086	0.81[ASN][1000 genomes]
rs9305300	0.82[ASN][1000 genomes]
rs9647125	0.81[ASN][1000 genomes]
rs9647126	0.81[ASN][1000 genomes]
rs9647127	0.82[ASN][1000 genomes]
rs9974419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977437	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979644	0.94[EUR][1000 genomes]
rs9981498	0.92[EUR][1000 genomes]
rs9981850	0.84[ASN][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	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28430200-28433000	Enhancers	Hela-S3	cervix
2	chr21:28430800-28433200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:28430800-28433200	Enhancers	Osteobl	bone
4	chr21:28431000-28433200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr21:28431400-28433200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:28432200-28432400	Enhancers	HSMMtube	muscle
7	chr21:28432200-28432600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:28432200-28432600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28432200-28432800	Enhancers	NHDF-Ad	bronchial

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