Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10801801	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10922831	0.83[AMR][1000 genomes]
rs12022847	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12043844	0.83[AMR][1000 genomes]
rs12043900	0.83[AMR][1000 genomes]
rs12083345	0.83[AMR][1000 genomes]
rs12754978	0.80[EUR][1000 genomes]
rs28393962	0.83[AMR][1000 genomes]
rs34245845	0.80[AMR][1000 genomes]
rs34487333	0.83[AMR][1000 genomes]
rs35288412	0.86[AMR][1000 genomes]
rs35895061	0.84[AMR][1000 genomes]
rs4074584	0.83[AMR][1000 genomes]
rs4268341	0.83[AMR][1000 genomes]
rs4418577	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4489539	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs4548420	0.88[ASN][1000 genomes]
rs4551580	0.96[ASN][1000 genomes]
rs4557956	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6662232	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6673769	0.96[ASN][1000 genomes]
rs6674478	0.99[ASN][1000 genomes]
rs7528896	0.82[AMR][1000 genomes]
rs7550206	0.81[AMR][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	nsv524317	chr1:90729744-90836739	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv521123	chr1:90770566-90836739	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv870546	chr1:90783440-90816579	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4564125	RPAP2	cis	parietal	SCAN
rs4564125	EVI5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90806400-90810000	Weak transcription	GM12878-XiMat	blood
2	chr1:90806600-90808200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:90807200-90810200	Weak transcription	Dnd41	blood
4	chr1:90807400-90808200	Enhancers	Fetal Lung	lung

Quick Search: