Variant report

Variant	rs2735886
Chromosome Location	chr8:90651634-90651635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10956226	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13276910	1.00[CHB][hapmap]
rs1603288	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs160408	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160416	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs160418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160419	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160445	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2132348	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs216986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs216990	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218892	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs218896	0.81[EUR][1000 genomes]
rs218898	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs218904	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs218920	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs218943	0.81[EUR][1000 genomes]
rs218945	0.81[EUR][1000 genomes]
rs218949	0.80[EUR][1000 genomes]
rs218950	0.81[EUR][1000 genomes]
rs218951	0.81[EUR][1000 genomes]
rs39510	1.00[CHB][hapmap]
rs39518	1.00[CHB][hapmap]
rs39764	1.00[CHB][hapmap]
rs39765	1.00[CHB][hapmap]
rs419004	0.82[EUR][1000 genomes]
rs4961159	0.82[EUR][1000 genomes]
rs6999425	0.83[EUR][1000 genomes]
rs7828553	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv427825	chr8:90495139-90653696	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	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
5	nsv1028026	chr8:90553930-90678631	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2735886	RIPK2	cis	cerebellum	SCAN
rs2735886	CNGB3	cis	parietal	SCAN
rs2735886	MMP16	cis	cerebellum	SCAN
rs2735886	RIPK2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90616000-90652600	Weak transcription	Ovary	ovary
2	chr8:90629400-90659000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:90643600-90659600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:90646800-90658200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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