Variant report

Variant	rs4433704
Chromosome Location	chr13:62173779-62173780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11616619	0.80[ASN][1000 genomes]
rs11618197	0.82[ASN][1000 genomes]
rs11618840	0.80[ASN][1000 genomes]
rs12583182	0.80[ASN][1000 genomes]
rs12583674	0.83[ASN][1000 genomes]
rs12584815	0.80[ASN][1000 genomes]
rs12854026	0.84[ASN][1000 genomes]
rs12855361	0.84[ASN][1000 genomes]
rs12856551	0.87[ASN][1000 genomes]
rs12856668	0.86[ASN][1000 genomes]
rs12857633	0.87[ASN][1000 genomes]
rs12865850	0.84[ASN][1000 genomes]
rs12870813	0.82[ASN][1000 genomes]
rs12873364	0.84[ASN][1000 genomes]
rs12877762	0.84[ASN][1000 genomes]
rs17060076	0.87[ASN][1000 genomes]
rs17070255	0.87[ASN][1000 genomes]
rs17200703	0.90[EUR][1000 genomes]
rs2329312	0.87[EUR][1000 genomes]
rs2487339	0.80[EUR][1000 genomes]
rs2487340	0.84[EUR][1000 genomes]
rs2487342	0.84[EUR][1000 genomes]
rs2497625	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2876806	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002262	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34472182	0.80[ASN][1000 genomes]
rs34572426	0.80[ASN][1000 genomes]
rs34689230	0.87[ASN][1000 genomes]
rs34768890	0.82[ASN][1000 genomes]
rs35544122	0.87[ASN][1000 genomes]
rs35990992	0.82[ASN][1000 genomes]
rs4884383	0.90[EUR][1000 genomes]
rs4884390	0.80[ASN][1000 genomes]
rs4886343	0.87[ASN][1000 genomes]
rs4886344	0.87[ASN][1000 genomes]
rs4886345	0.90[EUR][1000 genomes]
rs57749251	0.82[ASN][1000 genomes]
rs60915788	0.87[ASN][1000 genomes]
rs61955263	0.84[ASN][1000 genomes]
rs7994446	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9539235	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948661	chr13:61906251-62179649	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2761266	chr13:61928642-62690828	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv948810	chr13:62003256-62968196	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053698	chr13:62108064-62271909	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv900249	chr13:62133250-62218811	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv900250	chr13:62147535-62321073	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4433704	PCDH20	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62173000-62173800	Weak transcription	Brain Substantia Nigra	brain
2	chr13:62173600-62175200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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