Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:164182971..164185942-chr6:164192050..164193651,2	K562	blood:
2	chr6:164187913..164189923-chr6:164191758..164194024,2	K562	blood:
3	chr6:164187135..164189923-chr6:164191237..164194024,3	K562	blood:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1040641	0.85[ASN][1000 genomes]
rs1111705	0.85[ASN][1000 genomes]
rs1885960	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2015261	0.82[ASN][1000 genomes]
rs4709760	0.85[ASN][1000 genomes]
rs4709765	0.85[ASN][1000 genomes]
rs4709766	0.85[ASN][1000 genomes]
rs6925383	0.93[ASN][1000 genomes]
rs7741716	0.89[ASN][1000 genomes]
rs7741892	0.89[ASN][1000 genomes]
rs7745869	0.89[ASN][1000 genomes]
rs7748991	0.81[EUR][1000 genomes]
rs7762180	0.81[ASN][1000 genomes]
rs8180622	0.85[ASN][1000 genomes]
rs880095	0.83[ASN][1000 genomes]
rs9295231	0.87[ASN][1000 genomes]
rs9295232	0.84[ASN][1000 genomes]
rs9295233	0.86[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs9295234	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs9346974	0.81[ASN][1000 genomes]
rs9347791	0.87[ASN][1000 genomes]
rs9347792	0.85[ASN][1000 genomes]
rs9347793	0.85[ASN][1000 genomes]
rs9355439	0.85[ASN][1000 genomes]
rs9355440	0.83[ASN][1000 genomes]
rs9355442	0.86[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs9356147	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9364701	0.86[ASN][1000 genomes]
rs9364703	0.82[ASN][1000 genomes]
rs9365619	0.83[ASN][1000 genomes]
rs9365620	0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs9456883	0.84[ASN][1000 genomes]
rs9456885	0.85[ASN][1000 genomes]
rs9458898	0.89[ASN][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9356148	NCRNA00241	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164186000-164200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:164186200-164203600	Weak transcription	Right Atrium	heart
3	chr6:164192400-164195400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:164192600-164196200	Weak transcription	K562	blood

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