Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93141218..93144173-chr9:93173013..93175871,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10761373	0.82[JPT][hapmap]
rs10821444	0.82[JPT][hapmap]
rs10821452	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs10993468	0.82[JPT][hapmap]
rs10993469	0.82[JPT][hapmap]
rs1581933	0.87[ASN][1000 genomes]
rs1648477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1754057	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1754093	0.80[ASN][1000 genomes]
rs1777035	0.87[JPT][hapmap]
rs2771080	0.91[JPT][hapmap]
rs2771081	0.91[JPT][hapmap]
rs2771103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798038	0.87[ASN][1000 genomes]
rs2798051	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6479595	0.82[JPT][hapmap]
rs7046597	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs7047032	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs7870764	0.82[JPT][hapmap]
rs9332454	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv528155	chr9:93106543-93152717	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv482748	chr9:93123377-93279526	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv893565	chr9:93130796-93392332	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv968584	chr9:93143967-93149921	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1571451	RP11-389K14.3	cis	lung	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93142800-93147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:93143400-93145600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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