Variant report

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10467198	1.00[AMR][1000 genomes]
rs11182460	0.82[YRI][hapmap]
rs11182464	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs11182465	0.86[YRI][hapmap]
rs11182468	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11182471	0.81[YRI][hapmap]
rs11182503	1.00[AMR][1000 genomes]
rs12300006	1.00[AMR][1000 genomes]
rs12301186	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304363	1.00[AMR][1000 genomes]
rs12308192	1.00[AMR][1000 genomes]
rs12308857	0.87[YRI][hapmap]
rs12310486	1.00[AMR][1000 genomes]
rs12311300	1.00[AMR][1000 genomes]
rs12312536	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12313072	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12313462	0.87[YRI][hapmap];0.94[AFR][1000 genomes]
rs1493757	1.00[AMR][1000 genomes]
rs56009337	1.00[AMR][1000 genomes]
rs57316311	1.00[AMR][1000 genomes]
rs59907388	1.00[AMR][1000 genomes]
rs60037016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60810059	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61334019	1.00[AMR][1000 genomes]
rs74084496	0.94[AFR][1000 genomes]
rs74085006	1.00[AMR][1000 genomes]
rs74085037	1.00[AMR][1000 genomes]
rs74085043	1.00[AMR][1000 genomes]
rs74085152	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087530	1.00[AMR][1000 genomes]
rs9971775	1.00[AMR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44750400-44753000	Enhancers	Fetal Heart	heart

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