Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47440210..47441884-chr12:47447583..47450154,2	K562	blood:
2	chr12:47448359..47450506-chr12:47463398..47466117,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10785651	0.99[ASN][1000 genomes]
rs10881039	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183677	0.87[EUR][1000 genomes]
rs11183699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183706	0.99[ASN][1000 genomes]
rs11183710	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989912	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2263492	0.81[EUR][1000 genomes]
rs2408647	0.81[EUR][1000 genomes]
rs2522258	0.81[EUR][1000 genomes]
rs2522269	0.81[EUR][1000 genomes]
rs34142537	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768770	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7134654	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305847	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956438	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7958568	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7960974	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7971310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971796	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972871	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978950	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47429400-47450000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47445000-47450400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:47447400-47450000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr12:47447400-47450400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:47447800-47448800	Weak transcription	K562	blood
6	chr12:47448400-47449200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:47448400-47449600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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