Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49968339..49970198-chr15:49970893..49972415,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10519233	0.91[LWK][hapmap];1.00[YRI][hapmap]
rs12594585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12595447	0.86[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs13329455	1.00[YRI][hapmap]
rs1588127	0.91[LWK][hapmap];1.00[YRI][hapmap]
rs17402569	1.00[YRI][hapmap]
rs17480434	1.00[YRI][hapmap]
rs17481696	1.00[YRI][hapmap]
rs28516445	0.91[AFR][1000 genomes]
rs3210227	1.00[YRI][hapmap]
rs57496745	0.90[ASN][1000 genomes]
rs59589271	0.81[ASN][1000 genomes]
rs72729127	0.81[ASN][1000 genomes]
rs72729132	0.81[ASN][1000 genomes]
rs72729199	0.84[ASN][1000 genomes]
rs72731108	0.87[ASN][1000 genomes]
rs72731111	0.87[ASN][1000 genomes]
rs72731116	0.84[ASN][1000 genomes]
rs72731119	0.84[ASN][1000 genomes]
rs72731122	0.90[ASN][1000 genomes]
rs72731124	0.85[ASN][1000 genomes]
rs72731125	0.90[ASN][1000 genomes]
rs72731137	0.96[ASN][1000 genomes]
rs72731140	0.96[ASN][1000 genomes]
rs8040716	1.00[YRI][hapmap]
rs9920033	1.00[YRI][hapmap]
rs9920705	0.91[AFR][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	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17482833	DTWD1	cis	cerebellum	SCAN
rs17482833	TRPM7	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49966800-49987400	Weak transcription	NHLF	lung
2	chr15:49970000-49972000	Enhancers	Ovary	ovary
3	chr15:49970800-49972000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:49971000-49972000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:49971200-49971800	Weak transcription	NHDF-Ad	bronchial

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