Variant report

Variant	rs11832462
Chromosome Location	chr12:62525039-62525040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11609226	1.00[ASN][1000 genomes]
rs11612077	0.93[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612171	1.00[ASN][1000 genomes]
rs11615656	1.00[ASN][1000 genomes]
rs11836702	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836749	1.00[ASN][1000 genomes]
rs11836835	1.00[ASN][1000 genomes]
rs11837325	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313846	0.93[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656359	0.93[CEU][hapmap]
rs17656662	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs17657275	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659212	1.00[ASN][1000 genomes]
rs17713184	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs17713527	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs17713954	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028727	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892748	1.00[ASN][1000 genomes]
rs55760731	1.00[ASN][1000 genomes]
rs68065049	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139338	1.00[ASN][1000 genomes]
rs7296903	1.00[ASN][1000 genomes]
rs7308137	1.00[ASN][1000 genomes]
rs73123946	1.00[ASN][1000 genomes]
rs73123987	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73129936	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131820	1.00[ASN][1000 genomes]
rs73131826	1.00[ASN][1000 genomes]
rs73131829	1.00[ASN][1000 genomes]
rs73131836	1.00[ASN][1000 genomes]
rs73133481	1.00[ASN][1000 genomes]
rs73133484	1.00[ASN][1000 genomes]
rs7979000	1.00[ASN][1000 genomes]
rs9669548	1.00[ASN][1000 genomes]
rs9738227	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9738424	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9738426	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9738798	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap]
rs9739100	0.93[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11832462	MON2	cis	cerebellum	SCAN
rs11832462	MIP	cis	parietal	SCAN
rs11832462	TIMELESS	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62519800-62525600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:62522600-62526600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:62524000-62526000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:62524000-62526200	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:62524600-62525200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:62524600-62525400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:62524600-62525400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:62524800-62525400	Enhancers	H1 Cell Line	embryonic stem cell

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