Variant report

Variant	rs7583022
Chromosome Location	chr2:209266897-209266898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10175739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10180707	0.82[ASN][1000 genomes]
rs10182087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10186531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10206991	0.91[EUR][1000 genomes]
rs10208191	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10208295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10210393	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497899	0.82[ASN][1000 genomes]
rs1057390	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs10932256	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10932259	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11897777	0.93[EUR][1000 genomes]
rs11897897	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs11899172	0.86[ASN][1000 genomes]
rs12475932	0.82[MEX][hapmap]
rs12617780	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623816	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12694109	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12694111	0.82[ASN][1000 genomes]
rs12991283	0.85[CEU][hapmap]
rs13000248	0.85[CEU][hapmap]
rs13391882	0.86[ASN][1000 genomes]
rs13392540	0.86[CHB][hapmap];0.82[YRI][hapmap]
rs13397965	0.93[EUR][1000 genomes]
rs1370375	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1370377	1.00[JPT][hapmap]
rs1437414	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1595329	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16840798	1.00[CHB][hapmap]
rs16840864	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841242	0.88[CHB][hapmap];0.93[ASN][1000 genomes]
rs1866044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1866045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1869534	0.86[ASN][1000 genomes]
rs1869535	0.86[ASN][1000 genomes]
rs1898435	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1898436	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1898437	0.94[AMR][1000 genomes]
rs2304545	0.81[AMR][1000 genomes]
rs2363468	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35293936	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs35444703	0.88[YRI][hapmap]
rs3856350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4234089	1.00[CEU][hapmap]
rs4462735	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs4558530	0.96[ASN][1000 genomes]
rs4673395	1.00[JPT][hapmap]
rs4675748	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs4675750	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4675751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4675761	0.84[AMR][1000 genomes]
rs60916150	0.96[ASN][1000 genomes]
rs61195726	0.96[ASN][1000 genomes]
rs6713477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6721780	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6725548	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6725932	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6742461	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6752329	0.86[ASN][1000 genomes]
rs7595880	0.86[ASN][1000 genomes]
rs920218	0.82[ASN][1000 genomes]
rs9288394	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs959660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs962595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9646839	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7583022	PIKFYVE	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209264400-209271200	Weak transcription	Pancreas	Pancrea
2	chr2:209266800-209267000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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