Variant report

Variant	rs6047798
Chromosome Location	chr20:21985498-21985499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1007169	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11699227	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1555264	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1555265	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs169311	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1884588	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1884589	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1884590	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1884595	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1980551	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1980552	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1980571	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1986765	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1988545	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2009652	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs201547	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs201548	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2024885	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2208050	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2208051	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2208054	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2208055	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254540	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2281526	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328680	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328681	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328682	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328683	0.80[ASN][1000 genomes]
rs2328684	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424418	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424419	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424421	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424423	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3818179	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3818180	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3818181	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3818182	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3818183	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4390829	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4544515	0.83[EUR][1000 genomes]
rs6036003	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036007	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6047714	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6047715	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6047731	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6047732	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6047733	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6047743	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047744	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047745	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047748	0.82[EUR][1000 genomes]
rs6047749	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047768	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6047769	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6047799	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6075858	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6075861	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6082556	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6082560	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6106434	0.81[ASN][1000 genomes]
rs6106438	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6113413	0.81[EUR][1000 genomes]
rs6113414	0.82[EUR][1000 genomes]
rs6113415	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6113416	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6113418	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6113424	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113425	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113431	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113435	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113456	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137473	0.83[EUR][1000 genomes]
rs6137476	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6515191	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs927059	0.88[EUR][1000 genomes];0.83[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6047798	PLK1S1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21984600-21986400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr20:21985200-21987400	Weak transcription	Fetal Stomach	stomach

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