Variant report

Variant	rs6711313
Chromosome Location	chr2:183416697-183416698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10182788	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677310	0.82[CHB][hapmap]
rs11690729	0.87[ASN][1000 genomes]
rs1367201	0.95[CEU][hapmap]
rs1527878	0.82[EUR][1000 genomes]
rs1918700	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1965089	0.82[EUR][1000 genomes]
rs35960621	0.81[ASN][1000 genomes]
rs4490143	0.87[EUR][1000 genomes]
rs4666588	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60420748	0.87[ASN][1000 genomes]
rs6747954	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72892739	0.90[ASN][1000 genomes]
rs72892751	0.90[ASN][1000 genomes]
rs72892758	0.87[ASN][1000 genomes]
rs7563329	0.87[ASN][1000 genomes]
rs9332425	0.81[YRI][hapmap]

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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6711313	PDE1A	cis	thalamus	BrainEAC
rs6711313	PDE1A	cis	substantia nigra	BrainEAC
rs6711313	PDE1A	cis	intralobular white matter	BrainEAC
rs6711313	PDE1A	cis	putamen	BrainEAC
rs6711313	PDE1A	cis	Brain Pons	GTEx
rs6711313	PDE1A	cis	inferior olivary nucleus	BrainEAC
rs6711313	PDE1A	cis	brain	BrainEAC

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183415000-183416800	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:183415000-183417000	Enhancers	Brain Substantia Nigra	brain
3	chr2:183415400-183418000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:183416000-183417000	Enhancers	Brain Hippocampus Middle	brain
5	chr2:183416200-183417000	Enhancers	Brain Anterior Caudate	brain
6	chr2:183416200-183417200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:183416200-183417200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:183416600-183417600	Weak transcription	Brain Angular Gyrus	brain

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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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