Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192195586..192197336-chr1:192197464..192199978,2	MCF-7	breast:
2	chr1:192199080..192200643-chr1:192201096..192203046,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10801111	0.80[AMR][1000 genomes]
rs10921129	0.80[AMR][1000 genomes]
rs1124172	0.83[GIH][hapmap];0.95[MEX][hapmap]
rs1175121	0.81[AMR][1000 genomes]
rs1175123	0.81[AMR][1000 genomes]
rs1175127	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1175129	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1175132	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1175134	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1175145	0.81[CEU][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap]
rs1175147	0.88[AMR][1000 genomes]
rs1175148	0.87[AMR][1000 genomes]
rs1175154	0.88[AMR][1000 genomes]
rs1175155	0.88[AMR][1000 genomes]
rs1175156	0.88[AMR][1000 genomes]
rs1175158	0.87[AMR][1000 genomes]
rs1177797	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124127	0.95[MEX][hapmap]
rs1339129	0.81[CEU][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs1572729	0.83[GIH][hapmap];0.95[MEX][hapmap]
rs2249061	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249062	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369658	0.81[AMR][1000 genomes]
rs4495675	0.88[JPT][hapmap]
rs6428094	0.83[GIH][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs6428095	0.81[CEU][hapmap]
rs6659110	0.82[CEU][hapmap]
rs6663865	0.95[MEX][hapmap]
rs7526348	0.88[JPT][hapmap]
rs7528947	0.82[CEU][hapmap]
rs7532216	0.83[GIH][hapmap];0.95[MEX][hapmap]
rs7538387	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430047	chr1:191811587-192203678	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1175128	OR6C1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192195200-192202000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:192195600-192202000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:192199200-192200200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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