Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10093232	0.84[EUR][1000 genomes]
rs10093382	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10100465	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10108248	0.84[EUR][1000 genomes]
rs10955822	0.84[EUR][1000 genomes]
rs10955825	0.80[EUR][1000 genomes]
rs1160474	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13254406	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13280410	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13439042	0.93[EUR][1000 genomes]
rs1383176	0.84[EUR][1000 genomes]
rs1396351	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1396354	0.93[EUR][1000 genomes]
rs1508555	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1508569	0.80[EUR][1000 genomes]
rs16890041	0.84[EUR][1000 genomes]
rs17753197	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218017	0.83[CEU][hapmap]
rs218018	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs2202792	0.93[EUR][1000 genomes]
rs2202793	0.93[EUR][1000 genomes]
rs2202794	0.85[EUR][1000 genomes]
rs34660998	0.83[EUR][1000 genomes]
rs4604472	0.84[EUR][1000 genomes]
rs4876727	0.89[EUR][1000 genomes]
rs6469700	0.81[EUR][1000 genomes]
rs7815693	0.83[EUR][1000 genomes]
rs7838659	0.80[AMR][1000 genomes];0.83[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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1028387	chr8:118602105-118640162	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10089009	ENPP2	cis	parietal	SCAN
rs10089009	PAPPA	trans	cerebellum	SCAN
rs10089009	NT5M	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118636800-118640400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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