Variant report

Variant	rs12832716
Chromosome Location	chr12:67301130-67301131
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	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10506512	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10506514	0.85[CEU][hapmap]
rs10878523	0.82[CEU][hapmap]
rs10878524	0.80[CEU][hapmap]
rs11176484	0.82[CEU][hapmap]
rs12228305	0.82[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]
rs12811382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12812455	0.85[CEU][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12813453	0.85[CEU][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];1.00[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]
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	0.82[CEU][hapmap]
rs1995504	0.82[CEU][hapmap]
rs35928413	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv17595	chr12:67295958-67301314	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67293400-67304000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:67298000-67303000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:67298200-67302600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:67298200-67302800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:67298200-67303000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:67299200-67302800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:67299400-67301200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:67300200-67301600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:67300400-67301200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:67300600-67301200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:67300600-67301600	Enhancers	HMEC	breast
12	chr12:67300800-67301800	Enhancers	NHEK	skin

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