Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:62044721..62047676-chr8:62048656..62051008,2	MCF-7	breast:
2	chr8:61567081..61569634-chr8:62050277..62052303,2	K562	blood:
3	chr8:62036289..62038012-chr8:62049623..62051509,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10104116	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs10108726	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10112795	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278769	1.00[JPT][hapmap]
rs1347004	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1367973	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1367974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17831345	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2007873	0.82[ASN][1000 genomes]
rs2052993	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2919303	0.82[JPT][hapmap]
rs2919305	0.82[JPT][hapmap]
rs2931292	0.82[JPT][hapmap]
rs2931322	1.00[JPT][hapmap]
rs2931323	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2978498	1.00[JPT][hapmap]
rs2978558	0.82[JPT][hapmap]
rs56699308	0.82[EUR][1000 genomes]
rs6983455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017626	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650205	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1026243	chr8:62039073-62101123	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7824081	CLVS1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62034400-62051400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:62039000-62051400	Weak transcription	Pancreas	Pancrea
3	chr8:62045600-62051400	Weak transcription	GM12878-XiMat	blood
4	chr8:62050600-62051400	Enhancers	Fetal Intestine Large	intestine

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