Variant report

Variant	rs970651
Chromosome Location	chr13:48453704-48453705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1041070	0.82[ASN][1000 genomes]
rs10870820	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11618397	0.81[CHB][hapmap]
rs12428259	0.81[CHB][hapmap]
rs12429137	0.81[CHB][hapmap]
rs1326136	0.81[CHB][hapmap]
rs1326140	0.81[CHB][hapmap]
rs1536301	0.81[CHB][hapmap]
rs2094194	0.83[ASN][1000 genomes]
rs2104373	0.87[AFR][1000 genomes]
rs2296574	0.81[CHB][hapmap]
rs4941615	0.82[ASN][1000 genomes]
rs4941619	0.81[CHB][hapmap]
rs4942711	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4942727	0.86[CHB][hapmap]
rs6561429	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs7318770	0.87[CHB][hapmap]
rs7320366	0.80[JPT][hapmap]
rs7338125	0.81[CHB][hapmap]
rs765809	0.81[CHB][hapmap]
rs7984527	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7989231	0.87[CHB][hapmap]
rs7996580	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs7997802	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs7998116	0.81[CHB][hapmap]
rs7999360	0.81[CHB][hapmap]
rs9316338	0.96[ASN][1000 genomes]
rs9526429	0.81[CHB][hapmap]
rs9534877	0.81[CHB][hapmap]
rs9534878	0.81[CHB][hapmap]
rs9534881	0.81[CHB][hapmap]
rs9534889	0.81[CHB][hapmap]
rs9534904	0.81[CHB][hapmap]
rs9534905	0.81[CHB][hapmap]
rs9534906	0.81[CHB][hapmap]
rs9534929	0.80[CHB][hapmap]
rs9562773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9567939	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9567942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9567954	0.82[ASN][1000 genomes]
rs9567955	0.82[ASN][1000 genomes]
rs9567958	0.87[CHB][hapmap]
rs9567960	0.81[CHB][hapmap]
rs9567980	0.80[CHB][hapmap]
rs9567986	0.81[CHB][hapmap]
rs9595815	0.87[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs9595825	0.81[CHB][hapmap]
rs970650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs970651	SUCLA2	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48449000-48464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:48453600-48453800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:48453600-48454600	Enhancers	HMEC	breast
5	chr13:48453600-48454800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:48453600-48454800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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