Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10770889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046312	1.00[EUR][1000 genomes]
rs2080555	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2193383	1.00[AMR][1000 genomes]
rs2909074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2909081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2955493	1.00[AMR][1000 genomes]
rs2955502	1.00[EUR][1000 genomes]
rs4072818	1.00[EUR][1000 genomes]
rs4762731	1.00[AMR][1000 genomes]
rs4762875	1.00[EUR][1000 genomes]
rs4762883	1.00[AMR][1000 genomes]
rs4762884	1.00[AMR][1000 genomes]
rs4762885	1.00[AMR][1000 genomes]
rs56796024	1.00[EUR][1000 genomes]
rs6487283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487284	1.00[AMR][1000 genomes]
rs7294698	1.00[AMR][1000 genomes]
rs7297003	1.00[AMR][1000 genomes]
rs7308269	1.00[AMR][1000 genomes]
rs7316435	1.00[AMR][1000 genomes]
rs73252077	1.00[EUR][1000 genomes]
rs73252089	1.00[EUR][1000 genomes]
rs73268247	1.00[EUR][1000 genomes]
rs7486136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs759585	1.00[AMR][1000 genomes]
rs7968117	1.00[EUR][1000 genomes]
rs975238	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv437729	chr12:22234058-22268523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22255400-22262200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:22256000-22271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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