Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67242687..67244841-chr8:67253124..67255055,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10095148	0.80[EUR][1000 genomes]
rs10095182	0.92[CEU][hapmap]
rs10112574	0.93[CEU][hapmap];0.91[CHB][hapmap]
rs1030420	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[YRI][hapmap]
rs10957371	0.95[ASN][1000 genomes]
rs10957375	0.80[EUR][1000 genomes]
rs11775347	0.89[ASN][1000 genomes]
rs11775711	0.95[ASN][1000 genomes]
rs11778701	0.95[ASN][1000 genomes]
rs11779375	0.92[ASN][1000 genomes]
rs11779443	0.89[ASN][1000 genomes]
rs11780639	0.90[CHB][hapmap]
rs11986630	0.92[ASN][1000 genomes]
rs11991674	0.86[ASN][1000 genomes]
rs11998720	0.86[ASN][1000 genomes]
rs12335128	0.91[CHB][hapmap]
rs1582808	0.98[ASN][1000 genomes]
rs1978566	0.90[CHB][hapmap]
rs2303519	0.90[CHB][hapmap]
rs2357892	0.95[ASN][1000 genomes]
rs2884318	0.95[ASN][1000 genomes]
rs3739334	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs3739337	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs7010700	0.86[ASN][1000 genomes]
rs7011134	0.86[ASN][1000 genomes]
rs7014273	0.80[EUR][1000 genomes]
rs7014980	1.00[CEU][hapmap]
rs746149	0.81[ASN][1000 genomes]
rs7817343	0.95[ASN][1000 genomes]
rs7818340	0.89[ASN][1000 genomes]
rs7828555	0.88[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10092482	C8orf46	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67252600-67266800	Weak transcription	Psoas Muscle	Psoas
2	chr8:67253000-67256600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:67253000-67256800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:67253800-67259600	Enhancers	Placenta	Placenta

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