Variant report

Variant	rs6738012
Chromosome Location	chr2:100652252-100652253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11675333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680846	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11684692	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11685258	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11685397	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11688877	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11691359	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11692695	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11693242	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693804	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11695782	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12998219	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13019124	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17352731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17437470	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1821831	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34754366	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34851723	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34860145	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35167301	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35462405	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35720347	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35742951	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6724583	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6740622	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6748064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74177693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:100633600-100652400	Weak transcription	Ovary	ovary
3	chr2:100633600-100653000	Weak transcription	Fetal Lung	lung
4	chr2:100633600-100660600	Weak transcription	Lung	lung
5	chr2:100637200-100658400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:100639000-100660600	Weak transcription	Primary T cells from cord blood	blood
7	chr2:100639600-100657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:100644600-100668400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:100646400-100662600	Weak transcription	Gastric	stomach
10	chr2:100648200-100666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100650600-100656800	Weak transcription	Fetal Brain Female	brain
12	chr2:100651200-100653000	Strong transcription	Primary B cells from cord blood	blood
13	chr2:100651800-100652400	Enhancers	HepG2	liver
14	chr2:100651800-100659600	Weak transcription	Left Ventricle	heart
15	chr2:100652000-100652600	Weak transcription	Fetal Brain Male	brain
16	chr2:100652000-100656200	Weak transcription	Primary B cells from peripheral blood	blood

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