Variant report

Variant	rs57246267
Chromosome Location	chr12:67370525-67370526
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11176587	1.00[EUR][1000 genomes]
rs11832239	1.00[EUR][1000 genomes]
rs12297026	1.00[EUR][1000 genomes]
rs12311003	1.00[EUR][1000 genomes]
rs12311606	1.00[EUR][1000 genomes]
rs12314595	1.00[EUR][1000 genomes]
rs12315896	1.00[EUR][1000 genomes]
rs12316782	1.00[EUR][1000 genomes]
rs1526840	1.00[EUR][1000 genomes]
rs17103084	1.00[EUR][1000 genomes]
rs17103108	1.00[EUR][1000 genomes]
rs17103356	1.00[EUR][1000 genomes]
rs2062860	1.00[EUR][1000 genomes]
rs57250913	1.00[EUR][1000 genomes]
rs7311891	1.00[EUR][1000 genomes]
rs73315209	1.00[EUR][1000 genomes]
rs73315213	1.00[EUR][1000 genomes]
rs73315223	1.00[EUR][1000 genomes]
rs73315226	1.00[EUR][1000 genomes]
rs73315253	1.00[EUR][1000 genomes]
rs73317181	1.00[EUR][1000 genomes]
rs73317201	1.00[EUR][1000 genomes]
rs73318916	1.00[EUR][1000 genomes]
rs73320908	1.00[EUR][1000 genomes]
rs73320944	1.00[EUR][1000 genomes]
rs73320950	1.00[EUR][1000 genomes]
rs73333072	1.00[EUR][1000 genomes]
rs73333073	1.00[EUR][1000 genomes]
rs7965522	1.00[EUR][1000 genomes]
rs7967225	1.00[EUR][1000 genomes]
rs7978079	1.00[EUR][1000 genomes]
rs7978516	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1040723	chr12:67329322-67396230	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv525987	chr12:67336812-67394408	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv559210	chr12:67339554-67398938	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1040543	chr12:67345920-67395598	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1041160	chr12:67357870-67439696	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67370000-67371000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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