Variant report

Variant	rs12811382
Chromosome Location	chr12:67305277-67305278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10506512	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10506514	0.85[CEU][hapmap];0.80[GIH][hapmap];0.84[TSI][hapmap]
rs10506515	0.83[TSI][hapmap]
rs10878523	0.85[CEU][hapmap]
rs10878524	0.84[CEU][hapmap]
rs11176484	0.85[CEU][hapmap]
rs12228305	0.85[CEU][hapmap]
rs12809312	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12809578	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12810010	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12810857	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12810930	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12811330	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12812455	0.85[CEU][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12813453	0.85[CEU][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12815385	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12815995	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12818812	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12818966	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12819213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12820561	0.83[AMR][1000 genomes]
rs12820755	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12820762	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12820990	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12820993	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12821155	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12821257	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12821510	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12821539	0.86[AMR][1000 genomes]
rs12821983	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12825803	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12829393	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12830426	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12832716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17182971	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17780496	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995503	0.85[CEU][hapmap]
rs1995504	0.85[CEU][hapmap]
rs35928413	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1054433	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv541523	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv521008	chr12:67305277-67322614	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12811382	C12orf66	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67302200-67309000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67302600-67305400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:67304400-67305400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:67304600-67305400	Enhancers	Primary T cells from cord blood	blood

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