Variant report

Variant	rs4666845
Chromosome Location	chr2:183354938-183354939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10931017	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10931020	0.88[CEU][hapmap]
rs10931022	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs12621579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430146	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1560375	0.81[AMR][1000 genomes]
rs1594306	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082135	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2368300	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2368301	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs2368302	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs6433976	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6747766	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6760317	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7597921	1.00[CHB][hapmap]
rs934260	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs934261	0.84[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2279238	chr2:183354544-183354972	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4666845	PDE1A	cis	parietal	SCAN
rs4666845	PDE1A	cis	Brain Pons	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183347800-183355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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