Variant report

Variant	rs11063266
Chromosome Location	chr12:4736677-4736678
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11610298	0.95[ASN][1000 genomes]
rs11614450	0.95[ASN][1000 genomes]
rs12580262	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[ASN][1000 genomes]
rs12580572	0.88[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286574	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2302249	0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs2302250	1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2302251	1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34047542	0.95[ASN][1000 genomes]
rs3741927	1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3753146	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3815359	1.00[EUR][1000 genomes]
rs56731247	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58050359	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60680748	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61027608	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61909962	0.91[ASN][1000 genomes]
rs66659476	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7133130	0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs7137549	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv468986	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv557124	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:4725400-4736800	Weak transcription	Pancreas	Pancrea
3	chr12:4725400-4737000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:4725400-4737000	Weak transcription	Left Ventricle	heart
5	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:4725600-4738400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:4735600-4736800	Enhancers	HMEC	breast
8	chr12:4735800-4738400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:4736000-4737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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