Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93397196..93399394-chr9:93400643..93403183,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1542479	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16906722	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2231775	1.00[ASW][hapmap]
rs2231776	1.00[ASW][hapmap]
rs2297353	0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2297354	0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs72733262	0.90[ASN][1000 genomes]
rs72735386	0.90[ASN][1000 genomes]
rs72735388	0.90[ASN][1000 genomes]
rs72735390	0.90[ASN][1000 genomes]
rs72735391	0.90[ASN][1000 genomes]
rs72735392	0.90[ASN][1000 genomes]
rs72744799	0.88[ASN][1000 genomes]
rs72744801	0.88[ASN][1000 genomes]
rs72746503	0.88[ASN][1000 genomes]
rs72746505	0.88[ASN][1000 genomes]
rs72746506	0.83[ASN][1000 genomes]
rs72746508	0.88[ASN][1000 genomes]
rs72746510	0.88[ASN][1000 genomes]
rs72757615	0.88[ASN][1000 genomes]
rs72757616	0.88[ASN][1000 genomes]
rs72757617	0.88[ASN][1000 genomes]
rs72757620	0.88[ASN][1000 genomes]
rs72757623	0.90[ASN][1000 genomes]
rs72757626	0.96[ASN][1000 genomes]
rs72757629	0.96[ASN][1000 genomes]
rs72757630	0.96[ASN][1000 genomes]
rs72757631	0.96[ASN][1000 genomes]
rs72757639	0.94[ASN][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	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv893566	chr9:93209923-93439259	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv482757	chr9:93356095-93543903	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16906728	PLXDC1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93394000-93400800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:93394600-93401400	Weak transcription	Brain Hippocampus Middle	brain
3	chr9:93396200-93401800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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