Variant report

Variant	rs467806
Chromosome Location	chr21:40247615-40247616
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40241705..40244760-chr21:40247140..40250390,3	K562	blood:
2	chr21:40240674..40242419-chr21:40245224..40247812,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11701301	1.00[ASN][1000 genomes]
rs11911369	0.81[ASN][1000 genomes]
rs17230954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17230961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2298560	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2410062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2836715	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836720	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836724	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28420538	1.00[JPT][hapmap]
rs28508188	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28817686	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836833	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414845	0.82[JPT][hapmap]
rs467698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57740627	0.81[ASN][1000 genomes]
rs59086904	1.00[ASN][1000 genomes]
rs714780	0.81[ASN][1000 genomes]
rs7278693	0.96[ASN][1000 genomes]
rs7279299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7283433	0.96[ASN][1000 genomes]
rs73450548	0.81[ASN][1000 genomes]
rs73450552	0.81[ASN][1000 genomes]
rs8127274	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9979509	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv587478	chr21:40243459-40275033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3432556	chr21:40245432-40247630	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40246000-40250000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr21:40246600-40247800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr21:40246600-40248600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr21:40246600-40248800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:40246600-40248800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:40246800-40249000	Enhancers	Dnd41	blood
7	chr21:40247000-40248400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr21:40247000-40248600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:40247000-40249000	Enhancers	Fetal Thymus	thymus
10	chr21:40247200-40248800	Enhancers	Thymus	Thymus
11	chr21:40247400-40247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:40247400-40247800	Enhancers	HMEC	breast
13	chr21:40247600-40247800	Enhancers	Spleen	Spleen
14	chr21:40247600-40248400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:40247600-40248600	Enhancers	Primary hematopoietic stem cells	blood

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