Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:60536802..60538571-chr8:60542161..60544626,2	K562	blood:

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

rs_ID	r²[population]
rs10107875	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10957102	0.91[ASN][1000 genomes]
rs12547681	0.89[EUR][1000 genomes]
rs12549965	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28679689	0.91[EUR][1000 genomes]
rs4342576	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501567	0.83[ASN][1000 genomes]
rs4737547	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62504693	0.85[ASN][1000 genomes]
rs6471795	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982265	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6983204	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986251	0.96[CEU][hapmap]
rs6990717	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6996733	0.85[ASN][1000 genomes]
rs7008068	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014422	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814268	0.83[ASN][1000 genomes]
rs7828435	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7838646	0.88[EUR][1000 genomes]

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	nsv1029441	chr8:60099776-60539141	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539629	chr8:60099776-60539141	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030564	chr8:60445016-60752655	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539630	chr8:60445016-60752655	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60533000-60541200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:60536600-60538800	Enhancers	Rectal Smooth Muscle	rectum
3	chr8:60537000-60542000	Enhancers	NHDF-Ad	bronchial
4	chr8:60537200-60540000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:60537200-60540400	Enhancers	Hela-S3	cervix
6	chr8:60537200-60541600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:60537400-60539000	Enhancers	HUVEC	blood vessel
8	chr8:60537600-60539400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:60537800-60538600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:60537800-60539000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:60538000-60538400	Flanking Active TSS	NH-A	brain
12	chr8:60538000-60539200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:60538200-60538400	Flanking Active TSS	Osteobl	bone
14	chr8:60538200-60538600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:60538200-60538600	Enhancers	Colon Smooth Muscle	Colon
16	chr8:60538200-60543200	Weak transcription	Fetal Brain Male	brain

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