Variant report

Variant	rs6726421
Chromosome Location	chr2:185796842-185796843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10210216	0.82[CHB][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs10931155	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs10931156	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931158	0.80[AMR][1000 genomes]
rs12476147	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13025111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13026742	1.00[YRI][hapmap]
rs13388087	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs13401381	1.00[YRI][hapmap]
rs1366838	0.88[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1366840	0.88[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1366842	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1429427	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs17510170	0.82[AMR][1000 genomes]
rs1835172	0.88[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2170203	1.00[YRI][hapmap]
rs4667000	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667001	0.96[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56213902	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6722992	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6723392	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6745533	0.81[EUR][1000 genomes]
rs6751736	0.81[CHB][hapmap]
rs7594906	0.88[CHB][hapmap]
rs7603001	0.86[ASW][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.80[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][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	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv520974	chr2:185742474-186148230	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6726421	PDE1A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185792000-185805000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:185796800-185798200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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