Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11090520	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17409164	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17409195	1.00[ASW][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17483415	0.88[CEU][hapmap]
rs738398	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs738474	1.00[AFR][1000 genomes]
rs9608663	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9608665	0.85[CEU][hapmap]
rs9608666	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9608672	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9608675	0.90[GIH][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes]
rs9613549	1.00[AFR][1000 genomes]
rs9613552	1.00[AFR][1000 genomes]
rs9613558	1.00[AFR][1000 genomes]
rs9613560	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes]
rs9613568	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs9613569	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9613575	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9613590	0.82[AMR][1000 genomes]
rs9613591	1.00[AFR][1000 genomes]
rs9613613	1.00[AFR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv962867	chr22:28595811-28611386	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9613573	CRYBB2P1	cis	parietal	SCAN
rs9613573	HPS4	cis	parietal	SCAN
rs9613573	SF3A1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28577000-28603600	Weak transcription	Aorta	Aorta
2	chr22:28577800-28600400	Weak transcription	Right Atrium	heart
3	chr22:28598600-28600600	Enhancers	HUVEC	blood vessel

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