Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61085167..61087969-chr8:61090479..61092210,2	K562	blood:
2	chr8:61086260..61087963-chr8:61146884..61150490,3	K562	blood:

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

rs_ID	r²[population]
rs10098343	0.81[EUR][1000 genomes]
rs11775573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784705	0.81[AMR][1000 genomes]
rs1464326	0.95[JPT][hapmap]
rs1520273	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1520274	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1850970	0.82[ASN][1000 genomes]
rs2242154	0.84[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs2242155	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2242156	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2681534	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2681545	0.94[JPT][hapmap]
rs2681554	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681555	0.85[ASN][1000 genomes]
rs2681558	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3140	0.90[JPT][hapmap]
rs720208	0.81[EUR][1000 genomes]
rs726581	0.85[ASN][1000 genomes]
rs763981	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1356828	TOX	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61086200-61087400	Enhancers	K562	blood
2	chr8:61086400-61092400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:61087000-61088000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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