Variant report

Variant	rs9315596
Chromosome Location	chr13:39151139-39151140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12875233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2323889	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35267996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4277225	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4497533	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61947497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7320842	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7338838	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7983501	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7993470	0.87[ASN][1000 genomes]
rs9315584	0.86[ASN][1000 genomes]
rs9315594	0.94[JPT][hapmap]
rs9315595	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9532256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9532258	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9548383	0.86[ASN][1000 genomes]
rs9548385	0.88[ASN][1000 genomes]
rs9548392	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9548393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548412	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548414	0.86[EUR][1000 genomes]
rs9548415	0.86[EUR][1000 genomes]
rs9566344	0.86[ASN][1000 genomes]
rs9566346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9566348	0.86[EUR][1000 genomes]
rs9576561	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9576569	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9576581	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832584	chr13:39074265-39284724	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9315596	SPG20	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39151000-39151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:39151000-39151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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