Variant report

Variant	rs1052563
Chromosome Location	chr4:78532232-78532233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11730731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12646391	1.00[YRI][hapmap]
rs17002731	0.92[CEU][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs1875266	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41349845	0.92[CEU][hapmap];1.00[LWK][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41439345	0.92[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62304086	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62304089	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62304092	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62304095	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62304096	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62304097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62304099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829975	chr4:78426210-78565198	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1010104	chr4:78520674-78553754	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1052563	G3BP2	cis	cerebellum	SCAN
rs1052563	PRDM8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78529600-78540000	Weak transcription	Right Atrium	heart
2	chr4:78532000-78544000	Weak transcription	Fetal Lung	lung

Quick Search:

Input of quick search could be:

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

what's new

Quick links