Variant report

Variant	rs7312422
Chromosome Location	chr12:44382509-44382510
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	chr12:44378394..44380087-chr12:44381679..44383181,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10736018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748386	0.84[ASN][1000 genomes]
rs10785492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880608	1.00[CEU][hapmap];0.81[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880616	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10880617	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1098878	0.85[CHB][hapmap];0.83[YRI][hapmap];0.90[ASN][1000 genomes]
rs11182382	0.85[CHB][hapmap];0.87[MKK][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs11182384	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs11182385	0.89[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs11182396	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11182402	1.00[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs11182404	0.81[EUR][1000 genomes]
rs11182405	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs12099769	0.89[CEU][hapmap]
rs12230287	0.81[EUR][1000 genomes]
rs12296857	1.00[CEU][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs12301507	0.91[TSI][hapmap]
rs12306662	0.81[GIH][hapmap]
rs12313365	0.91[EUR][1000 genomes]
rs12322164	0.90[ASN][1000 genomes]
rs1565620	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs1688723	0.90[ASN][1000 genomes]
rs17094013	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1976211	0.89[CEU][hapmap]
rs2407788	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407789	0.84[AMR][1000 genomes]
rs3929354	0.89[CEU][hapmap]
rs4474500	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs6582494	0.92[EUR][1000 genomes]
rs7301406	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73087684	0.81[EUR][1000 genomes]
rs73087700	0.81[EUR][1000 genomes]
rs73089723	0.81[EUR][1000 genomes]
rs73089727	0.81[EUR][1000 genomes]
rs7959226	0.89[CEU][hapmap]
rs7980005	0.89[CEU][hapmap]
rs842194	0.84[MKK][hapmap]
rs842199	0.85[CHB][hapmap];0.87[MKK][hapmap]
rs842202	0.84[ASN][1000 genomes]
rs859699	0.90[ASN][1000 genomes]
rs863580	0.85[CHB][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs9919676	0.81[EUR][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
3	chr12:44377400-44386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44381000-44385200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44382200-44382800	Enhancers	Stomach Mucosa	stomach
6	chr12:44382400-44382800	Enhancers	GM12878-XiMat	blood
7	chr12:44382400-44383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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