Variant report

Variant	rs9315632
Chromosome Location	chr13:39516627-39516628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10454604	0.99[ASN][1000 genomes]
rs10467462	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10467463	0.99[ASN][1000 genomes]
rs11840412	0.99[ASN][1000 genomes]
rs11840417	0.97[ASN][1000 genomes]
rs11843227	0.98[ASN][1000 genomes]
rs11843956	0.99[ASN][1000 genomes]
rs4072678	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4280107	0.99[ASN][1000 genomes]
rs4315232	0.99[ASN][1000 genomes]
rs4397982	0.99[ASN][1000 genomes]
rs4424787	0.99[ASN][1000 genomes]
rs4494416	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4494417	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4544122	0.99[ASN][1000 genomes]
rs4591006	0.99[ASN][1000 genomes]
rs4640053	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6563652	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs67819958	0.98[ASN][1000 genomes]
rs7317233	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7317892	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7321477	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7338854	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73449995	0.98[ASN][1000 genomes]
rs7992792	0.99[ASN][1000 genomes]
rs7993992	0.98[ASN][1000 genomes]
rs7994024	0.99[ASN][1000 genomes]
rs9315628	0.99[ASN][1000 genomes]
rs9315630	0.99[ASN][1000 genomes]
rs9315631	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9315633	0.99[ASN][1000 genomes]
rs9548558	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566374	0.86[JPT][hapmap]
rs9566375	0.89[ASN][1000 genomes]
rs9566376	0.97[ASN][1000 genomes]
rs9566380	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9576644	0.89[ASN][1000 genomes]
rs9576645	0.98[ASN][1000 genomes]
rs9576647	0.99[ASN][1000 genomes]
rs9594308	0.96[ASN][1000 genomes]
rs9594309	0.99[ASN][1000 genomes]
rs9594311	0.99[ASN][1000 genomes]
rs9594312	0.99[ASN][1000 genomes]
rs9603471	0.98[ASN][1000 genomes]
rs9603472	0.98[ASN][1000 genomes]
rs9603475	0.97[ASN][1000 genomes]
rs9603476	0.99[ASN][1000 genomes]
rs9603477	0.99[ASN][1000 genomes]
rs9603482	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9603483	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]

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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1053818	chr13:39512274-39533011	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Metabolic syndrome	20694148	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9315632	C13orf38	cis	cerebellum	SCAN
rs9315632	EXOSC8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39514800-39524200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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