Variant report

Variant	rs12830426
Chromosome Location	chr12:67322033-67322034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10506512	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10506514	0.83[CEU][hapmap]
rs12809312	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12809578	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12810010	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810857	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12810930	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12811330	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12811382	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12812455	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12813453	0.82[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12815385	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12815995	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12818812	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12818966	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12819213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12820561	0.85[AMR][1000 genomes]
rs12820755	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12820762	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12820990	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12820993	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12821155	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12821257	0.84[EUR][1000 genomes]
rs12821510	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12821539	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12821983	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12825803	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12829393	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12832716	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17182971	0.84[EUR][1000 genomes]
rs17780496	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35928413	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1054433	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv541523	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv521008	chr12:67305277-67322614	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr12:67315600-67327800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67317800-67323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:67319200-67322600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:67320400-67328200	Weak transcription	Placenta	Placenta
5	chr12:67320800-67323800	Enhancers	Primary T cells from cord blood	blood
6	chr12:67321200-67322200	Enhancers	Brain Germinal Matrix	brain
7	chr12:67321600-67328200	Weak transcription	Colon Smooth Muscle	Colon

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