Variant report

Variant	rs10952616
Chromosome Location	chr7:145035227-145035228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1002527	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10255844	0.97[ASN][1000 genomes]
rs10271795	0.95[ASN][1000 genomes]
rs10952614	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952615	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11765651	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11976907	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12112673	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12112682	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12673648	0.84[EUR][1000 genomes]
rs12673691	0.84[EUR][1000 genomes]
rs12673814	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1468374	0.95[ASN][1000 genomes]
rs1468375	0.97[ASN][1000 genomes]
rs17805910	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806163	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1859565	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2023995	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2107891	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2190081	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371963	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4726755	0.97[ASN][1000 genomes]
rs4726756	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726758	0.97[ASN][1000 genomes]
rs57132884	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57524854	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59098873	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62495645	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62495646	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62495647	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62495920	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62495921	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62495922	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62495923	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464672	0.91[ASN][1000 genomes]
rs67346243	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972400	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779709	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7779731	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7780174	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7780968	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7790233	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7792751	0.95[ASN][1000 genomes]
rs7799717	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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	nsv1031071	chr7:144318082-145125392	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv539169	chr7:144318082-145125392	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10952616	TAS2R39	cis	cerebellum	SCAN
rs10952616	SNORD41	trans	parietal	SCAN
rs10952616	TRPV5	cis	parietal	SCAN
rs10952616	TRPV6	cis	parietal	SCAN
rs10952616	CUL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145034800-145036400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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