Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114191563..114193194-chr5:114193379..114196328,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10039613	0.91[CEU][hapmap];0.88[GIH][hapmap];0.92[TSI][hapmap]
rs10068274	0.90[EUR][1000 genomes]
rs10077812	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10085128	0.81[EUR][1000 genomes]
rs10477524	0.82[ASN][1000 genomes]
rs12518615	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13356109	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1453026	0.89[EUR][1000 genomes]
rs1479343	0.83[EUR][1000 genomes]
rs1479348	0.90[EUR][1000 genomes]
rs2416395	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4705685	0.94[EUR][1000 genomes]
rs4705687	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55726828	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55886343	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56381271	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66578808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs890748	0.81[EUR][1000 genomes]
rs9326935	0.89[EUR][1000 genomes]
rs9326936	0.82[ASN][1000 genomes]
rs988700	0.89[EUR][1000 genomes];0.82[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	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020798	chr5:113821828-114392727	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537867	chr5:113821828-114392727	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	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
rs10054099	APOD	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114192400-114193000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:114192400-114193400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:114192600-114193200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:114192600-114193400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:114192600-114193600	Enhancers	Primary monocytes fromperipheralblood	blood

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