Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209401346..209403763-chr1:209407691..209409973,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10863762	1.00[AMR][1000 genomes]
rs11119241	1.00[AMR][1000 genomes]
rs1933599	1.00[AMR][1000 genomes]
rs1933605	1.00[AMR][1000 genomes]
rs1933609	1.00[AMR][1000 genomes]
rs1933615	1.00[AMR][1000 genomes]
rs1933617	1.00[AMR][1000 genomes]
rs1933618	1.00[AMR][1000 genomes]
rs1953754	1.00[AMR][1000 genomes]
rs2039177	1.00[AMR][1000 genomes]
rs2095766	1.00[AMR][1000 genomes]
rs2105164	1.00[AMR][1000 genomes]
rs2185096	1.00[AMR][1000 genomes]
rs2211046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2250698	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2788157	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2788169	1.00[AMR][1000 genomes]
rs2788171	1.00[AMR][1000 genomes]
rs2800918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2843177	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4240830	1.00[AMR][1000 genomes]
rs4844773	1.00[AMR][1000 genomes]
rs4844777	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[AMR][1000 genomes]
rs4844778	1.00[AMR][1000 genomes]
rs4844788	1.00[AMR][1000 genomes]
rs6665600	1.00[AMR][1000 genomes]
rs6668118	1.00[AMR][1000 genomes]
rs6681976	1.00[AMR][1000 genomes]
rs7529040	1.00[AMR][1000 genomes]
rs985777	0.82[YRI][hapmap];1.00[AMR][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2800917	IFITM3	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209404400-209409000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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