Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:141030971..141033718-chr2:141035593..141037981,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10180435	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10469593	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs1047874	0.90[CHB][hapmap]
rs11895946	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12104972	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs12476338	0.83[AMR][1000 genomes]
rs12477489	0.91[MEX][hapmap]
rs12479163	0.91[MEX][hapmap]
rs12999447	0.87[YRI][hapmap]
rs13004107	0.88[ASW][hapmap];0.87[YRI][hapmap]
rs13021003	0.85[GIH][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs13021878	0.85[YRI][hapmap]
rs13387241	0.90[CHB][hapmap]
rs13416149	0.89[CHB][hapmap]
rs1386356	0.91[CEU][hapmap];0.88[YRI][hapmap]
rs1486958	0.90[CHB][hapmap]
rs1486961	0.95[CHB][hapmap]
rs1486968	0.89[CHB][hapmap]
rs1492388	0.90[CHB][hapmap]
rs1492393	0.91[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs2029629	0.90[CHB][hapmap]
rs2046566	0.89[CHB][hapmap]
rs2171322	0.91[MEX][hapmap]
rs6743080	0.90[CHB][hapmap]
rs7579083	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7581796	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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	nsv834392	chr2:140920900-141086613	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv431757	chr2:140931289-141098020	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv2754266	chr2:141023643-141270786	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2839772	NXPH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141032600-141033000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:141032600-141033400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:141032800-141033200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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