Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145093601..145096391-chr5:145098604..145102525,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10038598	0.85[CEU][hapmap]
rs10041421	0.85[CEU][hapmap]
rs1019925	0.85[CEU][hapmap]
rs1019926	0.85[CEU][hapmap]
rs13169344	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13181159	0.90[EUR][1000 genomes]
rs1368342	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1583286	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1654147	0.80[EUR][1000 genomes]
rs1897542	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1972778	0.85[CEU][hapmap]
rs2400197	0.82[TSI][hapmap]
rs2400198	0.85[CEU][hapmap]
rs2436343	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs338885	0.92[CEU][hapmap]
rs338888	0.84[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap]
rs338893	1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap]
rs55824632	0.95[EUR][1000 genomes]
rs587224	1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap]
rs6867440	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap]
rs6871842	0.91[CEU][hapmap]
rs919729	0.88[AMR][1000 genomes];0.97[EUR][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	nsv883005	chr5:144945649-145107586	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv462474	chr5:145068001-145143775	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv599934	chr5:145068001-145143775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv969001	chr5:145097474-145111251	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1025473	SPINK5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145068600-145106200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:145082000-145106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:145091200-145106200	Weak transcription	Ovary	ovary

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