Variant report

Variant	rs10110245
Chromosome Location	chr8:69670445-69670446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69670378..69672339-chr8:69676760..69679321,2	MCF-7	breast:
2	chr8:69670346..69670937-chr8:70023622..70024278,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10096688	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs1016585	0.95[ASN][1000 genomes]
rs10957446	0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs11987041	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16935014	0.95[ASN][1000 genomes]
rs4299986	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4336597	0.97[ASN][1000 genomes]
rs4427154	0.95[ASN][1000 genomes]
rs4484685	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4621793	0.97[ASN][1000 genomes]
rs56260936	0.97[ASN][1000 genomes]
rs57305638	0.95[ASN][1000 genomes]
rs58399889	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60347737	0.95[ASN][1000 genomes]
rs60537301	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472419	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6472420	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs66773272	0.95[ASN][1000 genomes]
rs67228089	0.95[ASN][1000 genomes]
rs67492924	0.90[ASN][1000 genomes]
rs67603164	0.88[ASN][1000 genomes]
rs67673719	0.97[ASN][1000 genomes]
rs67892878	0.95[ASN][1000 genomes]
rs68094319	0.93[ASN][1000 genomes]
rs6990164	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs719689	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs719690	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs72668527	0.95[ASN][1000 genomes]
rs73277903	0.95[ASN][1000 genomes]
rs73277905	0.95[ASN][1000 genomes]
rs73277906	0.95[ASN][1000 genomes]
rs7821908	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7821966	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7822083	0.95[ASN][1000 genomes]
rs7822136	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7822340	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7826665	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7826725	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7826997	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7839911	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv465703	chr8:69641287-69814578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611462	chr8:69641287-69814578	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890986	chr8:69647914-69704366	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10110245	EYA1	cis	cerebellum	SCAN
rs10110245	VCPIP1	cis	parietal	SCAN
rs10110245	PTTG3P	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69640200-69676800	Weak transcription	Aorta	Aorta
2	chr8:69663600-69672200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:69664800-69671200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:69666600-69672000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:69666800-69670600	Weak transcription	Osteobl	bone
6	chr8:69666800-69671400	Weak transcription	NHDF-Ad	bronchial
7	chr8:69667800-69671600	Weak transcription	Fetal Lung	lung
8	chr8:69670000-69671000	Enhancers	Liver	Liver
9	chr8:69670200-69671000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:69670200-69671000	Enhancers	A549	lung
11	chr8:69670200-69671600	Enhancers	HSMMtube	muscle
12	chr8:69670200-69671800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:69670200-69672200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:69670200-69672400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:69670200-69672400	Enhancers	HSMM	muscle
16	chr8:69670200-69672400	Enhancers	NHLF	lung

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