Variant report

Variant	rs10778949
Chromosome Location	chr12:83612864-83612865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10746271	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10862604	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10862605	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11115641	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1356441	0.84[EUR][1000 genomes]
rs1356442	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1517814	0.84[EUR][1000 genomes]
rs2037258	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2037259	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2037260	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2403091	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403092	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2403093	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2896455	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4242871	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4882555	0.85[EUR][1000 genomes]
rs4882556	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4882557	0.85[EUR][1000 genomes]
rs6539708	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6539709	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6539711	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6539713	0.88[EUR][1000 genomes]
rs71445206	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7301011	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7302888	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7316717	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7953127	0.87[EUR][1000 genomes]
rs7962167	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7962962	0.87[EUR][1000 genomes]
rs7964401	0.82[AMR][1000 genomes]
rs7973484	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7979811	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs970483	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899352	chr12:83556258-83671428	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1046478	chr12:83603552-83669089	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv8996	chr12:83608444-83614006	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10778949	C14orf43	trans	parietal	SCAN
rs10778949	CCDC59	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83612800-83613000	Active TSS	Pancreatic Islets	Pancreatic Islet

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