Variant report

Variant	rs6472420
Chromosome Location	chr8:69681165-69681166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10096688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110245	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs4336598	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4351405	0.99[ASN][1000 genomes]
rs58399889	0.83[EUR][1000 genomes]
rs60537301	0.83[EUR][1000 genomes]
rs7845019	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1017131	chr8:69676989-69792515	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1814416	chr8:69678607-69683846	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6472420	EYA1	cis	cerebellum	SCAN
rs6472420	PTTG3P	cis	cerebellum	SCAN
rs6472420	VCPIP1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69673800-69682000	Weak transcription	HSMMtube	muscle
2	chr8:69674800-69682000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:69675200-69686200	Weak transcription	Fetal Lung	lung
4	chr8:69679800-69681200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:69680400-69682600	Weak transcription	NHLF	lung
6	chr8:69680600-69682000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:69680600-69682600	Weak transcription	HSMM	muscle
8	chr8:69680600-69682600	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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