Variant report

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1388585	1.00[YRI][hapmap]
rs2244159	0.90[AFR][1000 genomes]
rs2244534	0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs2244780	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs2253021	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs2253171	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2253867	0.86[AFR][1000 genomes]
rs2638223	0.86[AFR][1000 genomes]
rs2638235	0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs2638236	1.00[AFR][1000 genomes]
rs2638237	1.00[AFR][1000 genomes]
rs2638240	1.00[AFR][1000 genomes]
rs2638241	0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs2638242	0.90[AFR][1000 genomes]
rs2638243	0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs2638261	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2638265	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708403	0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708405	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708406	0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708410	1.00[AFR][1000 genomes]
rs2708411	0.87[AFR][1000 genomes]
rs2708415	1.00[AFR][1000 genomes]
rs2708416	0.82[YRI][hapmap]
rs2708460	0.86[AFR][1000 genomes]
rs2708461	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708471	1.00[AFR][1000 genomes]
rs2708475	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708483	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708484	1.00[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40532800-40543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40541400-40546600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:40541800-40546600	Weak transcription	Monocytes-CD14+_RO01746	blood

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