Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63585003..63587129-chr8:63588724..63590696,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11780909	0.86[EUR][1000 genomes]
rs12386973	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1600537	0.82[AMR][1000 genomes]
rs16929312	0.93[EUR][1000 genomes]
rs16929361	0.89[EUR][1000 genomes]
rs16929386	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16929397	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1871591	0.92[EUR][1000 genomes]
rs1904574	0.86[EUR][1000 genomes]
rs2054523	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28663458	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58817091	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58821999	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59260185	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472047	0.80[EUR][1000 genomes]
rs6996317	0.82[AMR][1000 genomes]
rs7003752	0.80[EUR][1000 genomes]
rs7008248	0.86[EUR][1000 genomes]
rs7008492	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73264859	0.92[EUR][1000 genomes]
rs7821374	0.82[AMR][1000 genomes]
rs931131	0.85[AMR][1000 genomes];0.87[EUR][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	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831340	chr8:63515126-63702660	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv890960	chr8:63516962-63629549	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1471516	VCPIP1	cis	cerebellum	SCAN
rs1471516	TOX	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63572400-63602600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63586600-63587200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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