Variant report

Variant	rs538977
Chromosome Location	chr1:76670242-76670243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10518526	1.00[ASN][1000 genomes]
rs11162089	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162098	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162099	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146657	1.00[ASN][1000 genomes]
rs1146659	1.00[ASN][1000 genomes]
rs11577339	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583963	1.00[ASN][1000 genomes]
rs11584597	1.00[ASN][1000 genomes]
rs11587725	1.00[ASN][1000 genomes]
rs11590555	1.00[ASN][1000 genomes]
rs12091356	1.00[ASN][1000 genomes]
rs12095328	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122853	1.00[ASN][1000 genomes]
rs1251466	1.00[ASN][1000 genomes]
rs1251468	1.00[ASN][1000 genomes]
rs1251469	1.00[ASN][1000 genomes]
rs1684948	1.00[ASN][1000 genomes]
rs17609927	1.00[ASN][1000 genomes]
rs17610084	1.00[ASN][1000 genomes]
rs17610851	1.00[ASN][1000 genomes]
rs17626151	1.00[ASN][1000 genomes]
rs17660872	1.00[ASN][1000 genomes]
rs17662194	1.00[ASN][1000 genomes]
rs36050099	1.00[ASN][1000 genomes]
rs434302	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453606	0.84[MKK][hapmap]
rs481510	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517017	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs518915	1.00[ASN][1000 genomes]
rs522414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541675	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549014	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61771334	1.00[ASN][1000 genomes]
rs61771335	1.00[ASN][1000 genomes]
rs61771336	1.00[ASN][1000 genomes]
rs61771337	1.00[ASN][1000 genomes]
rs61773761	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61773762	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61773763	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61773764	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61773765	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667200	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923246	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs538977	USP33	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76666400-76675000	Weak transcription	Aorta	Aorta
2	chr1:76666800-76673800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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