Variant report

Variant	rs4813451
Chromosome Location	chr20:22276299-22276300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1028444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1035986	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035987	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625314	0.84[AFR][1000 genomes]
rs1337908	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1569781	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1569782	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832371	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295099	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657921	0.87[AFR][1000 genomes]
rs4813452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815098	0.82[AFR][1000 genomes]
rs4815101	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815102	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59836638	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6106481	0.89[AFR][1000 genomes]
rs6106493	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113585	0.84[AFR][1000 genomes]
rs6113604	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113607	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113608	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113610	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137582	1.00[ASW][hapmap];0.92[LWK][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs62202800	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62202801	0.83[ASN][1000 genomes]
rs62202802	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202815	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202817	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202846	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8114448	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980970	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv962639	chr20:22254826-22283685	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4813451	CST2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22271400-22276600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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