Variant report

Variant	rs2823549
Chromosome Location	chr21:17389741-17389742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11088561	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12482831	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483563	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12483594	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12483611	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626424	0.92[ASN][1000 genomes]
rs13049528	0.92[ASN][1000 genomes]
rs1740137	0.85[ASN][1000 genomes]
rs1893382	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000700	0.96[ASN][1000 genomes]
rs2823545	0.96[ASN][1000 genomes]
rs2823546	0.92[ASN][1000 genomes]
rs2823550	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823570	0.93[ASN][1000 genomes]
rs2823571	0.93[ASN][1000 genomes]
rs2823572	0.93[ASN][1000 genomes]
rs2823573	0.93[ASN][1000 genomes]
rs2823574	0.90[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2823576	0.90[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2823577	0.81[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2823578	0.84[ASN][1000 genomes]
rs366613	0.85[ASN][1000 genomes]
rs388509	0.85[ASN][1000 genomes]
rs399959	0.85[ASN][1000 genomes]
rs400590	0.85[ASN][1000 genomes]
rs407058	0.85[ASN][1000 genomes]
rs417411	0.85[ASN][1000 genomes]
rs419827	0.85[ASN][1000 genomes]
rs419867	0.85[ASN][1000 genomes]
rs420571	0.85[ASN][1000 genomes]
rs420806	0.85[ASN][1000 genomes]
rs422504	0.84[ASN][1000 genomes]
rs433721	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs444574	0.85[ASN][1000 genomes]
rs447456	0.84[ASN][1000 genomes]
rs447842	0.85[ASN][1000 genomes]
rs451121	0.83[ASN][1000 genomes]
rs453844	0.88[ASN][1000 genomes]
rs457319	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459355	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037345	0.96[ASN][1000 genomes]
rs56110468	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517682	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7279935	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281157	0.92[ASN][1000 genomes]
rs73894724	0.96[ASN][1000 genomes]
rs73894727	0.86[ASN][1000 genomes]
rs8126662	0.93[ASN][1000 genomes]
rs9979920	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9984915	0.98[EUR][1000 genomes];0.93[ASN][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	nsv1064664	chr21:17336936-17405756	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv913414	chr21:17383785-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17389000-17390000	Active TSS	NHDF-Ad	bronchial
2	chr21:17389200-17390000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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