Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:53556612..53558834-chr17:53559236..53561973,2	MCF-7	breast:
2	chr17:53509852..53512199-chr17:53558715..53560249,2	K562	blood:
3	chr17:53559082..53561772-chr17:53563731..53566887,3	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10852975	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11079174	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11079176	0.92[ASN][1000 genomes]
rs11651780	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12051854	0.91[ASN][1000 genomes]
rs12051893	0.90[ASN][1000 genomes]
rs12936770	0.92[ASN][1000 genomes]
rs12937371	0.90[ASN][1000 genomes]
rs12937392	0.90[ASN][1000 genomes]
rs12937932	0.88[ASN][1000 genomes]
rs12939438	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12940283	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12943077	0.91[ASN][1000 genomes]
rs12945006	0.91[ASN][1000 genomes]
rs12946758	0.92[ASN][1000 genomes]
rs4312363	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4793796	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7207559	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7209034	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7211104	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7213973	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7220600	0.85[JPT][hapmap]
rs9303369	0.95[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9899662	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9914970	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8070676	RSAD1	cis	cerebellum	SCAN
rs8070676	ANKFN1	cis	cerebellum	SCAN
rs8070676	TOM1L1	cis	cerebellum	SCAN
rs8070676	MMD	cis	parietal	SCAN

Chromatin state (count:2 , 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

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