Variant report

Variant	rs7314055
Chromosome Location	chr12:57317903-57317904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10876954	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1872436	0.88[JPT][hapmap]
rs2629413	0.88[JPT][hapmap]
rs719749	0.88[JPT][hapmap]
rs719750	0.88[JPT][hapmap]
rs7970701	0.88[JPT][hapmap]
rs840160	0.88[JPT][hapmap]
rs840162	0.88[JPT][hapmap];0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs840163	0.83[GIH][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.87[ASN][1000 genomes]
rs844469	0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs863459	0.88[JPT][hapmap]

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	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
2	nsv899107	chr12:57293436-57321212	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7314055	COQ10A	cis	lymphoblastoid	seeQTL
rs7314055	KRT2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57316200-57321400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:57316400-57326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:57317400-57323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57317600-57323000	Weak transcription	Esophagus	oesophagus

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