Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67291731..67294016-chr8:67315658..67317561,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088592	0.99[ASN][1000 genomes]
rs1025228	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1030419	0.85[ASN][1000 genomes]
rs10957372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12541098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1963852	0.85[ASN][1000 genomes]
rs2081649	0.97[ASN][1000 genomes]
rs2162421	0.88[ASN][1000 genomes]
rs2357895	1.00[ASN][1000 genomes]
rs2465982	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2465984	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2465985	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2555565	0.85[ASN][1000 genomes]
rs2555575	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2718988	0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2718990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2719006	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2719009	0.80[ASN][1000 genomes]
rs4737786	0.88[ASN][1000 genomes]
rs6472269	0.88[ASN][1000 genomes]
rs6472270	0.88[ASN][1000 genomes]
rs7002723	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs753082	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7845448	0.88[ASN][1000 genomes]
rs890515	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs890516	0.88[ASN][1000 genomes]
rs9693689	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs977467	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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1559885	C8orf46	cis	Thyroid	GTEx
rs1559885	C8orf46	cis	Artery Aorta	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67301800-67319800	Weak transcription	Aorta	Aorta
2	chr8:67307400-67320000	Weak transcription	Liver	Liver
3	chr8:67311400-67318600	Weak transcription	Gastric	stomach
4	chr8:67315000-67319200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:67315400-67317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:67315400-67318600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:67315600-67317000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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