Variant report

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1120018	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1544593	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1544594	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1544595	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2109967	0.89[ASN][1000 genomes]
rs2109968	0.88[ASN][1000 genomes]
rs2159827	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2192024	0.83[ASN][1000 genomes]
rs2251761	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2430030	0.81[ASN][1000 genomes]
rs2430033	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2430034	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2430035	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2430036	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2430040	0.88[ASN][1000 genomes]
rs2430042	0.82[ASN][1000 genomes]
rs2430044	0.84[ASN][1000 genomes]
rs2430050	0.84[ASN][1000 genomes]
rs2471185	0.83[ASN][1000 genomes]
rs2471187	0.83[ASN][1000 genomes]
rs2471189	0.84[ASN][1000 genomes]
rs2471190	0.83[ASN][1000 genomes]
rs2471191	0.84[ASN][1000 genomes]
rs2471193	0.86[ASN][1000 genomes]
rs2471195	0.84[ASN][1000 genomes]
rs2471196	0.84[ASN][1000 genomes]
rs2471197	0.84[ASN][1000 genomes]
rs7789220	0.84[ASN][1000 genomes]
rs7789692	0.83[ASN][1000 genomes]
rs986997	0.82[ASN][1000 genomes]
rs987000	0.83[AMR][1000 genomes];0.86[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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1544592	CADPS2	cis	cerebellar cortex	BrainEAC
rs1544592	CADPS2	cis	brain	BrainEAC
rs1544592	CADPS2	cis	temporal cortex	BrainEAC
rs1544592	CADPS2	cis	frontal cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122293600-122318600	Weak transcription	Lung	lung
2	chr7:122294000-122314400	Weak transcription	Fetal Lung	lung
3	chr7:122301400-122315200	Weak transcription	Gastric	stomach
4	chr7:122305400-122312600	Weak transcription	Pancreas	Pancrea

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