Variant report

Variant	rs1421463
Chromosome Location	chr12:106307688-106307689
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10746051	0.87[CEU][hapmap]
rs1421466	0.92[ASN][1000 genomes]
rs1862033	0.87[CEU][hapmap];0.86[GIH][hapmap]
rs2111981	0.95[CEU][hapmap];0.89[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7971430	0.82[AMR][1000 genomes];0.88[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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1421463	HSP90B1	cis	parietal	SCAN
rs1421463	STAB2	cis	cerebellum	SCAN
rs1421463	KIAA1033	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106307600-106310600	Weak transcription	HSMMtube	muscle
2	chr12:106307600-106313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:106307600-106313800	Weak transcription	Fetal Lung	lung

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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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