Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:53556612..53558834-chr17:53559236..53561973,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11656380	0.94[ASN][1000 genomes]
rs11870717	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12325730	0.95[ASN][1000 genomes]
rs12451745	0.91[EUR][1000 genomes]
rs12940911	0.97[ASN][1000 genomes]
rs12942292	0.96[ASN][1000 genomes]
rs12943574	0.97[ASN][1000 genomes]
rs12944990	0.93[EUR][1000 genomes]
rs12950992	0.97[ASN][1000 genomes]
rs17819194	0.97[ASN][1000 genomes]
rs17819212	0.97[ASN][1000 genomes]
rs35686442	0.91[EUR][1000 genomes]
rs4432304	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4794592	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55794935	0.97[ASN][1000 genomes]
rs7220600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.96[MEX][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225691	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9303370	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs9890254	0.91[EUR][1000 genomes]
rs9890288	0.90[EUR][1000 genomes]
rs9899752	0.93[EUR][1000 genomes]
rs9903218	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9908571	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9910434	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12150374	ANKFN1	cis	cerebellum	SCAN
rs12150374	TOM1L1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53550800-53565000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:53556600-53565000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr17:53557200-53559000	Enhancers	K562	blood

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