Variant report

Variant	rs218892
Chromosome Location	chr8:90697810-90697811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10956226	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276910	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1603288	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs160408	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs160409	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs160410	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs160418	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs160419	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs160445	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs160447	0.83[EUR][1000 genomes]
rs183363	0.84[EUR][1000 genomes]
rs2088198	0.83[EUR][1000 genomes]
rs2132348	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs216986	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs216990	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs218896	0.90[EUR][1000 genomes]
rs218898	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs218904	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs218915	0.85[EUR][1000 genomes]
rs218917	0.81[CEU][hapmap]
rs218918	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs218920	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs218938	0.83[CHD][hapmap]
rs218943	0.91[EUR][1000 genomes]
rs218945	0.91[EUR][1000 genomes]
rs218949	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs218950	0.91[EUR][1000 genomes]
rs218951	0.90[EUR][1000 genomes]
rs218952	0.89[EUR][1000 genomes]
rs2735886	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28819479	0.86[EUR][1000 genomes]
rs390993	1.00[LWK][hapmap];0.91[MKK][hapmap]
rs39502	0.83[CHD][hapmap]
rs39510	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[LWK][hapmap]
rs39518	1.00[CHB][hapmap]
rs39764	1.00[CHB][hapmap]
rs39765	1.00[CHB][hapmap]
rs419004	0.91[EUR][1000 genomes]
rs4961159	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6999425	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7828553	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv982109	chr8:90556188-90703631	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv3340425	chr8:90686312-90722629	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs218892	RIPK2	cis	cerebellum	SCAN
rs218892	CNGB3	cis	parietal	SCAN
rs218892	RIPK2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90693200-90715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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