Variant report

Variant	rs7596359
Chromosome Location	chr2:100665274-100665275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100664157..100666108-chr2:100671125..100674050,2	MCF-7	breast:
2	chr2:100664977..100666534-chr2:100666677..100669564,2	MCF-7	breast:
3	chr2:100663847..100665928-chr2:100667859..100670315,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10192951	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10209201	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11682173	0.81[CEU][hapmap]
rs12996621	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13001130	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13001783	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13020141	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13033732	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13402289	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13402299	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13430705	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17023468	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1821830	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2118281	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34040706	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34714421	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35300735	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35730185	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35774174	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35840153	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35869550	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851243	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851244	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851250	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56037757	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56935201	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58683655	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59447631	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60311127	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60697219	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6750720	0.84[ASN][1000 genomes]
rs71413861	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7572939	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9784000	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100644600-100668400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:100648200-100666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100653200-100667200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100654800-100668200	Weak transcription	Thymus	Thymus
5	chr2:100656400-100680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:100658800-100668400	Weak transcription	Brain Germinal Matrix	brain
8	chr2:100659400-100680000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:100659600-100666000	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100659800-100671600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:100660000-100669000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:100660600-100678200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:100660800-100668800	Weak transcription	Lung	lung
14	chr2:100661600-100668800	Weak transcription	Fetal Brain Female	brain
15	chr2:100661800-100667200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:100661800-100668400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:100661800-100670400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:100662200-100684800	Weak transcription	Ovary	ovary
19	chr2:100662800-100665600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:100662800-100667400	Weak transcription	Dnd41	blood
21	chr2:100662800-100674200	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:100663000-100670400	Weak transcription	Gastric	stomach
23	chr2:100663000-100680800	Weak transcription	Fetal Kidney	kidney
24	chr2:100663000-100682200	Weak transcription	Fetal Heart	heart
25	chr2:100663400-100671600	Weak transcription	Primary T cells from cord blood	blood
26	chr2:100664200-100665600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:100664400-100667200	Weak transcription	Fetal Brain Male	brain
28	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
29	chr2:100664800-100668800	Weak transcription	Fetal Lung	lung
30	chr2:100665200-100665600	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links