Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70044817..70046967-chr1:70047411..70050199,2	K562	blood:

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

rs_ID	r²[population]
rs10157748	0.84[ASN][1000 genomes]
rs10489552	0.87[CHB][hapmap]
rs11209493	0.84[JPT][hapmap]
rs11209495	0.80[ASN][1000 genomes]
rs12036330	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12084695	0.86[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1245055	0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1245059	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1245060	0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1245066	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12750288	0.85[ASN][1000 genomes]
rs1572984	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1773349	0.87[CHB][hapmap]
rs2025598	0.84[ASN][1000 genomes]
rs2764536	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36080227	0.84[ASN][1000 genomes]
rs61782242	0.84[ASN][1000 genomes]
rs61782244	0.84[ASN][1000 genomes]
rs6662257	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6699502	0.84[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70035600-70053200	Weak transcription	Pancreas	Pancrea
2	chr1:70039800-70051400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:70041000-70046800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:70042400-70045600	Weak transcription	Fetal Brain Female	brain
5	chr1:70042400-70049400	Weak transcription	Fetal Brain Male	brain
6	chr1:70045200-70045800	Enhancers	Brain Anterior Caudate	brain

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