Variant report

Variant	rs1593135
Chromosome Location	chr16:71293362-71293363
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	chr16:71284023..71286364-chr16:71292179..71294097,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1002252	0.91[ASN][1000 genomes]
rs1018910	0.84[ASN][1000 genomes]
rs12149475	0.95[ASN][1000 genomes]
rs12708908	0.93[ASN][1000 genomes]
rs12708909	0.90[ASN][1000 genomes]
rs12708910	0.93[ASN][1000 genomes]
rs12708911	0.93[ASN][1000 genomes]
rs12918378	0.92[ASN][1000 genomes]
rs12929550	0.94[ASN][1000 genomes]
rs13330156	0.94[ASN][1000 genomes]
rs2009763	0.92[ASN][1000 genomes]
rs2288048	0.92[ASN][1000 genomes]
rs28673886	0.93[ASN][1000 genomes]
rs2883935	0.87[ASN][1000 genomes]
rs34832413	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3803704	0.93[ASN][1000 genomes]
rs4324135	0.95[ASN][1000 genomes]
rs4419068	0.84[ASN][1000 genomes]
rs4788786	0.91[ASN][1000 genomes]
rs4788787	0.94[ASN][1000 genomes]
rs6416737	0.83[ASN][1000 genomes]
rs6499492	0.95[ASN][1000 genomes]
rs6499493	0.94[ASN][1000 genomes]
rs7187450	0.94[ASN][1000 genomes]
rs7195330	0.92[ASN][1000 genomes]
rs8050933	0.94[ASN][1000 genomes]
rs8056169	0.93[ASN][1000 genomes]
rs8059792	0.95[ASN][1000 genomes]
rs8060653	0.93[ASN][1000 genomes]
rs8061378	0.95[ASN][1000 genomes]
rs8062240	0.94[ASN][1000 genomes]
rs8063629	0.89[ASN][1000 genomes]
rs9927032	0.88[ASN][1000 genomes]
rs9928675	0.92[ASN][1000 genomes]
rs9936354	0.94[ASN][1000 genomes]
rs9941262	0.95[ASN][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	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1860	chr16:71269156-71313852	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71290000-71294000	Enhancers	Primary T cells from cord blood	blood
2	chr16:71290200-71294800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:71290200-71317200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:71291000-71294400	Weak transcription	Brain Substantia Nigra	brain
5	chr16:71291000-71295000	Weak transcription	Brain Germinal Matrix	brain
6	chr16:71291800-71296400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:71292200-71295200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:71292400-71293400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:71292400-71293600	Enhancers	Fetal Brain Male	brain
10	chr16:71292400-71294400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:71292400-71295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:71292800-71297400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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