Variant report

Variant	rs2823571
Chromosome Location	chr21:17407133-17407134
allele	A/G
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:50)

rs_ID	r²[population]
rs11088561	0.89[ASN][1000 genomes]
rs12482831	0.91[ASN][1000 genomes]
rs12483563	0.93[ASN][1000 genomes]
rs12483594	0.93[ASN][1000 genomes]
rs12483611	0.93[ASN][1000 genomes]
rs12626424	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13049528	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1893382	0.93[ASN][1000 genomes]
rs1893383	0.93[ASN][1000 genomes]
rs2000700	0.95[ASN][1000 genomes]
rs2205453	0.81[ASN][1000 genomes]
rs2404032	0.81[ASN][1000 genomes]
rs2823534	0.81[ASN][1000 genomes]
rs2823535	0.81[ASN][1000 genomes]
rs2823536	0.81[ASN][1000 genomes]
rs2823537	0.81[ASN][1000 genomes]
rs2823538	0.81[ASN][1000 genomes]
rs2823539	0.81[ASN][1000 genomes]
rs2823540	0.81[ASN][1000 genomes]
rs2823542	0.81[ASN][1000 genomes]
rs2823543	0.81[ASN][1000 genomes]
rs2823545	0.89[ASN][1000 genomes]
rs2823546	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823549	0.93[ASN][1000 genomes]
rs2823550	0.93[ASN][1000 genomes]
rs2823570	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823572	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823573	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823574	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823576	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823577	0.88[ASN][1000 genomes]
rs2823578	0.88[ASN][1000 genomes]
rs2896726	0.81[ASN][1000 genomes]
rs390503	0.81[ASN][1000 genomes]
rs420519	0.81[ASN][1000 genomes]
rs435166	0.81[ASN][1000 genomes]
rs453844	0.82[ASN][1000 genomes]
rs457319	0.93[ASN][1000 genomes]
rs459355	0.93[ASN][1000 genomes]
rs56037345	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56110468	0.93[ASN][1000 genomes]
rs6517682	0.93[ASN][1000 genomes]
rs7277086	0.92[ASN][1000 genomes]
rs7279935	0.88[ASN][1000 genomes]
rs7281157	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73894724	0.95[ASN][1000 genomes]
rs73894727	0.86[ASN][1000 genomes]
rs8126662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979920	0.91[ASN][1000 genomes]
rs9984915	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913415	chr21:17400916-17452276	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2830060	chr21:17400916-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv527854	chr21:17400916-17459507	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	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	chr21:17406400-17407600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr21:17406400-17407800	Enhancers	Fetal Brain Female	brain

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