Variant report

Variant	rs11183913
Chromosome Location	chr12:47769427-47769428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47763219..47766043-chr12:47768327..47771310,3	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10492010	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10492012	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183848	0.85[ASN][1000 genomes]
rs11183850	0.80[ASN][1000 genomes]
rs11183851	0.95[ASN][1000 genomes]
rs11183853	0.95[ASN][1000 genomes]
rs11183854	0.95[ASN][1000 genomes]
rs11183855	0.95[ASN][1000 genomes]
rs11183856	0.95[ASN][1000 genomes]
rs11183857	0.95[ASN][1000 genomes]
rs11183858	0.95[ASN][1000 genomes]
rs11183859	0.95[ASN][1000 genomes]
rs11183860	0.95[ASN][1000 genomes]
rs11183862	0.95[ASN][1000 genomes]
rs11183863	0.95[ASN][1000 genomes]
rs11183866	0.95[ASN][1000 genomes]
rs11183869	0.86[ASN][1000 genomes]
rs11183871	0.95[ASN][1000 genomes]
rs11183872	0.90[ASN][1000 genomes]
rs11183874	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183875	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183877	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183879	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183880	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183881	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183882	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183883	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183884	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183885	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183886	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183890	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183891	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183892	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183894	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183897	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183898	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183900	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183901	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183916	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183926	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183928	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183930	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183969	1.00[JPT][hapmap]
rs11561402	0.95[ASN][1000 genomes]
rs12227067	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12228428	0.85[ASN][1000 genomes]
rs12228708	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12230585	0.85[ASN][1000 genomes]
rs12809861	0.95[ASN][1000 genomes]
rs12809955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12810168	0.95[ASN][1000 genomes]
rs12814166	0.90[ASN][1000 genomes]
rs12814452	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817826	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818155	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818420	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827137	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832953	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040644	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040645	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040646	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040647	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079026	0.95[ASN][1000 genomes]
rs2079027	0.90[ASN][1000 genomes]
rs2079028	0.90[ASN][1000 genomes]
rs215340	0.88[CHB][hapmap];1.00[CHD][hapmap]
rs34187987	0.95[ASN][1000 genomes]
rs34692456	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762197	0.95[ASN][1000 genomes]
rs34878892	0.95[ASN][1000 genomes]
rs35521464	0.90[ASN][1000 genomes]
rs35743720	0.95[ASN][1000 genomes]
rs35839210	0.95[ASN][1000 genomes]
rs35889007	0.95[ASN][1000 genomes]
rs36059508	0.95[ASN][1000 genomes]
rs4473016	0.95[ASN][1000 genomes]
rs4768145	0.95[ASN][1000 genomes]
rs4768146	0.95[ASN][1000 genomes]
rs4768147	0.95[ASN][1000 genomes]
rs4768153	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768798	0.95[ASN][1000 genomes]
rs4768800	0.95[ASN][1000 genomes]
rs4768805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs71445736	0.95[ASN][1000 genomes]
rs71462954	0.85[ASN][1000 genomes]
rs71462956	0.90[ASN][1000 genomes]
rs71462957	0.90[ASN][1000 genomes]
rs71462959	0.90[ASN][1000 genomes]
rs71462960	0.90[ASN][1000 genomes]
rs71462961	0.90[ASN][1000 genomes]
rs855129	0.85[ASN][1000 genomes]
rs855131	0.85[ASN][1000 genomes]
rs855132	0.85[ASN][1000 genomes]
rs855133	0.85[ASN][1000 genomes]
rs855139	0.85[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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11183913	TUBA1B	cis	cerebellum	SCAN
rs11183913	RHEBL1	cis	cerebellum	SCAN
rs11183913	YAF2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47762800-47771800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:47763200-47770800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:47763200-47772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47763200-47772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:47766200-47771200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:47766600-47772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:47768200-47770800	Weak transcription	HUVEC	blood vessel

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