Variant report

Variant	rs61840269
Chromosome Location	chr1:223034570-223034571
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11487817	0.88[EUR][1000 genomes]
rs11487861	0.88[EUR][1000 genomes]
rs11597	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17163510	0.88[EUR][1000 genomes]
rs17163518	0.88[EUR][1000 genomes]
rs17163525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17535305	0.90[AFR][1000 genomes]
rs34074917	0.90[AFR][1000 genomes]
rs34682656	0.90[AFR][1000 genomes]
rs34764163	0.90[AFR][1000 genomes]
rs34873092	0.87[AFR][1000 genomes]
rs34984199	0.80[AFR][1000 genomes]
rs35271605	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35530937	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35979308	0.83[AFR][1000 genomes]
rs35980718	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36044931	0.83[AFR][1000 genomes]
rs4415571	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61838109	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61839585	0.88[EUR][1000 genomes]
rs61839590	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61839593	0.88[EUR][1000 genomes]
rs61839607	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61839609	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61839610	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61839658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61840262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61840264	0.90[AFR][1000 genomes]
rs61840265	0.90[AFR][1000 genomes]
rs61840266	0.90[AFR][1000 genomes]
rs61840288	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61840295	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66597772	0.87[AFR][1000 genomes]
rs9441849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9441937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223017600-223042400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:223026800-223038200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223027000-223041000	Weak transcription	Lung	lung
4	chr1:223029800-223037600	Weak transcription	Psoas Muscle	Psoas
5	chr1:223029800-223066800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:223031400-223035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:223034200-223034800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:223034200-223035200	Enhancers	Dnd41	blood
9	chr1:223034200-223040000	Weak transcription	Left Ventricle	heart
10	chr1:223034400-223034800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:223034400-223035000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:223034400-223035000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:223034400-223035000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:223034400-223035000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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