Variant report

Variant	rs10481111
Chromosome Location	chr8:111697535-111697536
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10100947	0.89[EUR][1000 genomes]
rs10103670	0.94[ASN][1000 genomes]
rs10104666	0.93[ASN][1000 genomes]
rs10107288	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109131	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111772	0.93[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10112109	0.98[ASN][1000 genomes]
rs10481058	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10481059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955543	0.98[ASN][1000 genomes]
rs11776494	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782827	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11995209	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1489356	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1494240	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881031	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055108	0.98[ASN][1000 genomes]
rs2131847	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220822	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220823	0.98[ASN][1000 genomes]
rs2351320	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4360267	0.90[EUR][1000 genomes]
rs4469430	0.85[ASN][1000 genomes]
rs4510831	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4541876	0.86[ASN][1000 genomes]
rs4573245	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap]
rs4613971	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4735161	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735162	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6981969	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991689	0.90[EUR][1000 genomes]
rs6993743	0.81[EUR][1000 genomes]
rs7839628	0.89[EUR][1000 genomes]
rs7840844	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs937278	0.98[ASN][1000 genomes]
rs937279	0.98[ASN][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	nsv611882	chr8:111342240-111722469	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031119	chr8:111367939-111720763	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831422	chr8:111578949-111755170	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1027659	chr8:111585843-111875753	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1025390	chr8:111605571-111806020	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv539718	chr8:111605571-111806020	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831423	chr8:111672801-111869818	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1817780	chr8:111694657-111711197	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv1851720	chr8:111694657-111754075	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10481111	RSPO2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111696600-111697800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:111696800-111698400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:111697400-111697800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:111697400-111697800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:111697400-111698000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:111697400-111698200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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