Variant report

Variant	rs11810711
Chromosome Location	chr1:197664905-197664906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197650384..197656370-chr1:197660434..197666309,6	K562	blood:
2	chr1:197662721..197665578-chr1:197743679..197745656,2	MCF-7	breast:
3	chr1:197653272..197654957-chr1:197663523..197666309,2	K562	blood:

Variant related genes	Relation type
ENSG00000207139	Chromatin interaction
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11799471	0.82[AFR][1000 genomes]
rs11800936	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs11801895	1.00[AFR][1000 genomes]
rs11802251	1.00[AFR][1000 genomes]
rs11802844	1.00[YRI][hapmap]
rs11802940	1.00[AFR][1000 genomes]
rs11802964	1.00[AFR][1000 genomes]
rs11803371	1.00[AFR][1000 genomes]
rs11803914	1.00[AFR][1000 genomes]
rs11804057	1.00[AFR][1000 genomes]
rs11804072	1.00[AFR][1000 genomes]
rs11804259	1.00[AFR][1000 genomes]
rs11805327	1.00[AFR][1000 genomes]
rs11805399	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11805755	0.91[AFR][1000 genomes]
rs11805812	1.00[AFR][1000 genomes]
rs11805909	1.00[AFR][1000 genomes]
rs11806221	1.00[AFR][1000 genomes]
rs11806385	1.00[AFR][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[YRI][hapmap];1.00[AFR][1000 genomes]
rs11806651	1.00[AFR][1000 genomes]
rs11806821	1.00[AFR][1000 genomes]
rs11806872	1.00[AFR][1000 genomes]
rs11807717	1.00[AFR][1000 genomes]
rs11808140	0.91[AFR][1000 genomes]
rs11811376	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6657488	1.00[AFR][1000 genomes]
rs6666890	1.00[AFR][1000 genomes]
rs6667162	0.82[YRI][hapmap]
rs6667565	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6698391	1.00[AFR][1000 genomes]
rs6703514	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6703515	1.00[AFR][1000 genomes]
rs6704185	0.91[AFR][1000 genomes]
rs7522037	1.00[AFR][1000 genomes]
rs7533154	1.00[AFR][1000 genomes]
rs7535981	1.00[AFR][1000 genomes]
rs7543290	1.00[AFR][1000 genomes]
rs7545519	1.00[ASW][hapmap]
rs7554788	1.00[AFR][1000 genomes]
rs9661515	1.00[AFR][1000 genomes]
rs9727335	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv548873	chr1:197664905-197694037	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197653000-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:197653000-197665400	Weak transcription	Osteobl	bone
3	chr1:197657000-197677000	Weak transcription	Ovary	ovary
4	chr1:197658000-197665200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:197658200-197668200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:197658400-197665000	Weak transcription	NHEK	skin
7	chr1:197659400-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:197659400-197665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:197659400-197674800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:197659600-197665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:197659600-197665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:197659600-197665600	Weak transcription	K562	blood
13	chr1:197659600-197667000	Weak transcription	Primary B cells from cord blood	blood
14	chr1:197659800-197674400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:197664400-197665600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:197664400-197666000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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