Variant report

Variant	rs12826193
Chromosome Location	chr12:31750359-31750360
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	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255867	Chromatin interaction
ENSG00000170456	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs12809140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12812075	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs12816170	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12818749	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12819062	0.83[EUR][1000 genomes]
rs12820294	0.81[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12821808	0.90[EUR][1000 genomes]
rs12822601	0.85[EUR][1000 genomes]
rs12825207	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12831480	0.85[EUR][1000 genomes]
rs16918738	0.85[ASN][1000 genomes]
rs16918744	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16918795	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17497517	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17497656	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17497998	0.81[CEU][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2126897	0.81[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2271983	1.00[CHB][hapmap]
rs34094545	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34184789	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34271764	0.95[EUR][1000 genomes]
rs34308937	0.86[EUR][1000 genomes]
rs34450466	0.90[EUR][1000 genomes]
rs34585237	0.87[EUR][1000 genomes]
rs34642866	0.84[EUR][1000 genomes]
rs34667511	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34949976	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34955459	0.86[EUR][1000 genomes]
rs34986122	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35029695	0.84[EUR][1000 genomes]
rs35193529	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35545963	0.88[EUR][1000 genomes]
rs35567364	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35679974	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35692484	0.88[EUR][1000 genomes]
rs3850967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4338625	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4421825	1.00[CHB][hapmap]
rs4930977	0.88[CEU][hapmap]
rs4930981	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4930983	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4931498	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs4931503	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs4931504	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs4931510	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4931518	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55635343	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55643034	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55771933	0.87[EUR][1000 genomes]
rs56234529	0.91[EUR][1000 genomes]
rs56282720	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56409505	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66479670	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66520413	0.90[EUR][1000 genomes]
rs66552209	0.87[EUR][1000 genomes]
rs66597773	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66635949	0.88[EUR][1000 genomes]
rs67415228	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67963293	0.91[EUR][1000 genomes]
rs71455664	0.83[EUR][1000 genomes]
rs71455667	0.95[EUR][1000 genomes]
rs71455668	0.90[EUR][1000 genomes]
rs71455669	0.90[EUR][1000 genomes]
rs71455670	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71455671	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73080503	0.84[EUR][1000 genomes]
rs73084486	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73086471	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73088505	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73088597	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1840310	chr12:31743194-31750986	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv975472	chr12:31748491-31751020	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31745400-31750400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31745400-31760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:31748400-31750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:31749800-31750800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:31750200-31751600	Enhancers	Primary B cells from cord blood	blood
6	chr12:31750200-31758000	Enhancers	Primary B cells from peripheral blood	blood

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