Variant report

Variant	rs2212562
Chromosome Location	chr21:17886838-17886839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10084567	1.00[EUR][1000 genomes]
rs10084608	1.00[EUR][1000 genomes]
rs10084612	1.00[EUR][1000 genomes]
rs12482215	1.00[EUR][1000 genomes]
rs12482914	1.00[EUR][1000 genomes]
rs12483358	1.00[EUR][1000 genomes]
rs12483622	1.00[EUR][1000 genomes]
rs2040142	1.00[EUR][1000 genomes]
rs2155622	0.86[AMR][1000 genomes]
rs2226435	1.00[EUR][1000 genomes]
rs2823821	1.00[EUR][1000 genomes]
rs2823822	1.00[EUR][1000 genomes]
rs2823825	1.00[EUR][1000 genomes]
rs2823826	1.00[EUR][1000 genomes]
rs2823827	1.00[EUR][1000 genomes]
rs2823828	1.00[EUR][1000 genomes]
rs2823830	1.00[EUR][1000 genomes]
rs2823831	1.00[EUR][1000 genomes]
rs2823834	1.00[EUR][1000 genomes]
rs2823835	1.00[EUR][1000 genomes]
rs2823853	1.00[EUR][1000 genomes]
rs2823854	1.00[EUR][1000 genomes]
rs2823855	1.00[EUR][1000 genomes]
rs2823860	1.00[EUR][1000 genomes]
rs2823866	1.00[EUR][1000 genomes]
rs28496427	1.00[EUR][1000 genomes]
rs28875621	1.00[EUR][1000 genomes]
rs2896759	1.00[EUR][1000 genomes]
rs2896760	1.00[EUR][1000 genomes]
rs57039340	0.86[AMR][1000 genomes]
rs57523013	1.00[EUR][1000 genomes]
rs58072187	1.00[EUR][1000 genomes]
rs58175294	1.00[EUR][1000 genomes]
rs58304651	1.00[EUR][1000 genomes]
rs58640456	1.00[EUR][1000 genomes]
rs60754236	1.00[EUR][1000 genomes]
rs7277815	1.00[EUR][1000 genomes]
rs7278273	1.00[EUR][1000 genomes]
rs7280438	1.00[EUR][1000 genomes]
rs7283241	1.00[EUR][1000 genomes]
rs7283307	1.00[EUR][1000 genomes]
rs7283311	1.00[EUR][1000 genomes]
rs73363406	1.00[EUR][1000 genomes]
rs73363409	1.00[EUR][1000 genomes]
rs73363411	1.00[EUR][1000 genomes]
rs73366681	1.00[EUR][1000 genomes]
rs73366695	1.00[EUR][1000 genomes]
rs73368504	1.00[EUR][1000 genomes]
rs73368506	1.00[EUR][1000 genomes]
rs73368523	1.00[EUR][1000 genomes]
rs73380344	1.00[EUR][1000 genomes]
rs8128684	1.00[EUR][1000 genomes]
rs8132608	1.00[EUR][1000 genomes]
rs8132951	1.00[EUR][1000 genomes]
rs8133408	1.00[EUR][1000 genomes]
rs8134501	1.00[EUR][1000 genomes]
rs9305773	1.00[EUR][1000 genomes]
rs9976320	1.00[EUR][1000 genomes]
rs9976683	1.00[EUR][1000 genomes]
rs9977870	1.00[EUR][1000 genomes]
rs9981475	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17877600-17889600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr21:17878800-17889400	Weak transcription	Ovary	ovary
3	chr21:17879000-17891400	Weak transcription	Fetal Brain Male	brain
4	chr21:17882600-17894600	Weak transcription	Hela-S3	cervix
5	chr21:17882800-17890000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:17885600-17891200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:17886000-17887000	Enhancers	HMEC	breast
8	chr21:17886200-17889400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:17886400-17887000	Enhancers	NH-A	brain
10	chr21:17886800-17887000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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