Variant report

Variant	rs11802940
Chromosome Location	chr1:197649225-197649226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197645784..197649649-chr1:197651122..197654150,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11799366	1.00[AMR][1000 genomes]
rs11799471	0.82[AFR][1000 genomes]
rs11800199	1.00[AMR][1000 genomes]
rs11800936	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs11801895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802844	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11802964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805399	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11805755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806278	1.00[AMR][1000 genomes]
rs11806385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806492	1.00[AFR][1000 genomes]
rs11806557	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11806645	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806872	1.00[AFR][1000 genomes]
rs11807556	1.00[AMR][1000 genomes]
rs11807717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808140	0.91[AFR][1000 genomes]
rs11809220	1.00[AMR][1000 genomes]
rs11809987	1.00[AMR][1000 genomes]
rs11810711	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11811376	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841531	1.00[AMR][1000 genomes]
rs16841850	1.00[AMR][1000 genomes]
rs16841865	1.00[AMR][1000 genomes]
rs16841889	1.00[AMR][1000 genomes]
rs34240488	1.00[AMR][1000 genomes]
rs35781299	1.00[AMR][1000 genomes]
rs6657488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6666890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667162	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6667565	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698391	1.00[AFR][1000 genomes]
rs6703514	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6704185	0.91[AFR][1000 genomes]
rs7522037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7545519	1.00[ASW][hapmap]
rs7554788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9661515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9727335	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197640800-197657600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:197644000-197656000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:197645000-197651800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:197645000-197652600	Weak transcription	Left Ventricle	heart
5	chr1:197645200-197661000	Weak transcription	Esophagus	oesophagus
6	chr1:197645400-197655600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:197645600-197650600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:197645600-197657400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:197646400-197652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:197647200-197650800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:197647200-197657400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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