Variant report

Variant	rs7598587
Chromosome Location	chr2:183407212-183407213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183407157..183409269-chr2:183412477..183414356,2	K562	blood:
2	chr2:183406601..183409032-chr2:183409704..183411675,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10167605	1.00[CHB][hapmap]
rs10931017	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs10931020	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs10931022	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs11892516	1.00[CHB][hapmap]
rs12473783	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12621579	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs1430149	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1430156	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1594306	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs16823616	1.00[CHB][hapmap]
rs1835340	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2082135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs2368281	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368300	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs2368301	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs2368302	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs4666589	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666845	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs4666850	0.86[AMR][1000 genomes]
rs6433976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs6747766	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6747954	0.81[AFR][1000 genomes]
rs6758080	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760317	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs720245	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7557419	0.82[AMR][1000 genomes]
rs7570144	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581455	1.00[CHB][hapmap]
rs7595111	0.86[AMR][1000 genomes]
rs7597921	1.00[CHB][hapmap]
rs934260	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs934261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7598587	PDE1A	cis	Brain Pons	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183404200-183411800	Weak transcription	Fetal Brain Male	brain
2	chr2:183404600-183407400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:183404800-183408200	Weak transcription	Brain Substantia Nigra	brain
4	chr2:183406400-183407400	Weak transcription	HUVEC	blood vessel
5	chr2:183407200-183407400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:183407200-183407400	Enhancers	Muscle Satellite Cultured Cells	--

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