Variant report

Variant	rs201559
Chromosome Location	chr20:21997115-21997116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-8	chr20:21997077-21997326	NONHSAT078961

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1160312	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs127747	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1887056	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs201567	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs201585	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs201586	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201587	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201588	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs201589	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs201590	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs201592	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs201593	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs201594	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2876631	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4813446	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6036026	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6036027	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6036029	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047799	0.91[EUR][1000 genomes]
rs6047844	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6113496	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs913063	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs201559	OVOL2	cis	cerebellum	SCAN
rs201559	PLK1S1	cis	cerebellum	SCAN
rs201559	GINS1	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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