Variant report

Variant	rs2012586
Chromosome Location	chr21:37883667-37883668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37881926..37884525-chr21:37943803..37946713,3	K562	blood:
2	chr21:37881926..37884303-chr21:37943803..37946713,2	K562	blood:
3	chr21:37869833..37874104-chr21:37880007..37884528,4	MCF-7	breast:
4	chr21:37882896..37885656-chr21:37890791..37892598,2	K562	blood:

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

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

rs_ID	r²[population]
rs11088351	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1124801	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11701001	0.87[ASN][1000 genomes]
rs13052197	0.84[ASN][1000 genomes]
rs2187301	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226830	0.83[EUR][1000 genomes]
rs2298451	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2409820	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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835371	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2835373	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2835374	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835375	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835376	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2835377	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835379	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4816538	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4817804	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4817805	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5027467	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127879	0.81[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]
rs9305585	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9305586	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9305587	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9974188	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9979731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9981161	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9982353	0.94[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37881000-37883800	Enhancers	Placenta	Placenta
2	chr21:37881400-37884000	Enhancers	Esophagus	oesophagus
3	chr21:37882000-37883800	Enhancers	Pancreas	Pancrea
4	chr21:37882200-37884800	Enhancers	Fetal Lung	lung
5	chr21:37882200-37884800	Enhancers	HUVEC	blood vessel
6	chr21:37882200-37886000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr21:37882600-37884600	Enhancers	Fetal Kidney	kidney
8	chr21:37882600-37884800	Enhancers	Fetal Thymus	thymus
9	chr21:37882600-37885000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:37882600-37885600	Enhancers	Primary hematopoietic stem cells	blood
11	chr21:37882800-37884800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:37882800-37889200	Enhancers	Thymus	Thymus
13	chr21:37883200-37884200	Flanking Active TSS	GM12878-XiMat	blood
14	chr21:37883200-37895000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:37883400-37884000	Enhancers	Gastric	stomach
16	chr21:37883400-37884400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr21:37883400-37884600	Enhancers	Primary T cells from cord blood	blood
18	chr21:37883600-37884400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr21:37883600-37884600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:37883600-37884600	Enhancers	Dnd41	blood
21	chr21:37883600-37886200	Enhancers	Primary B cells from cord blood	blood

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