Variant report

Variant	rs9305585
Chromosome Location	chr21:37879118-37879119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11088351	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1124801	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11701001	0.87[ASN][1000 genomes]
rs13052197	0.84[ASN][1000 genomes]
rs2012586	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187301	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226830	0.83[EUR][1000 genomes]
rs2298451	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2409820	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835367	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2835368	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2835369	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835370	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835371	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2835373	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2835374	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835375	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835376	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2835377	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835379	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4816538	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4817804	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4817805	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5027467	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517354	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7278261	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7279532	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127879	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8130049	0.83[ASN][1000 genomes]
rs915750	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9305586	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9305587	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9974188	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9979731	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9981161	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9982353	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37858600-37881600	Weak transcription	Right Atrium	heart
2	chr21:37860600-37882200	Weak transcription	HUVEC	blood vessel
3	chr21:37872400-37881400	Weak transcription	Esophagus	oesophagus
4	chr21:37872600-37880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:37873600-37880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:37877200-37880200	Weak transcription	Fetal Kidney	kidney
7	chr21:37877400-37881000	Enhancers	GM12878-XiMat	blood
8	chr21:37878000-37880800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:37878000-37881000	Weak transcription	Placenta	Placenta
10	chr21:37878400-37879200	Enhancers	HepG2	liver
11	chr21:37878600-37880200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:37878800-37882200	Weak transcription	Fetal Lung	lung

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