Variant report

Variant	rs4403833
Chromosome Location	chr12:57265921-57265922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10783808	0.95[EUR][1000 genomes]
rs11832720	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12812221	0.83[CHB][hapmap]
rs12823784	0.95[EUR][1000 genomes]
rs17119173	0.83[CHB][hapmap]
rs34263825	0.87[EUR][1000 genomes]
rs34465459	0.95[EUR][1000 genomes]
rs4259865	0.95[EUR][1000 genomes]
rs4468384	0.87[EUR][1000 genomes]
rs4612852	0.87[EUR][1000 genomes]
rs4759040	0.95[EUR][1000 genomes]
rs4759265	0.95[EUR][1000 genomes]
rs58911887	0.95[EUR][1000 genomes]
rs7304127	0.83[CHB][hapmap]
rs7358569	0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4403833	SILV	cis	cerebellum	SCAN
rs4403833	CALCOCO1	cis	cerebellum	SCAN
rs4403833	HOXC12	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57265400-57270000	Weak transcription	Liver	Liver
2	chr12:57265800-57267600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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