Variant report

Variant	rs9964645
Chromosome Location	chr18:44946508-44946509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16954994	1.00[JPT][hapmap]
rs28638438	0.83[EUR][1000 genomes]
rs56207056	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57771146	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58556444	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60220971	0.96[AFR][1000 genomes]
rs60530780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61263060	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62095734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62097082	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6507738	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6507751	1.00[JPT][hapmap]
rs6507752	0.82[GIH][hapmap]
rs8095582	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9956704	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9963812	0.81[AMR][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	nsv833641	chr18:44815063-45020202	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	esv1801141	chr18:44908270-44955409	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9964645	CAPN8	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44938000-44951400	Weak transcription	Pancreas	Pancrea
2	chr18:44945000-44947000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:44946200-44946800	Enhancers	Primary B cells from peripheral blood	blood
4	chr18:44946400-44946600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr18:44946400-44946600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
6	chr18:44946400-44946600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:44946400-44946600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
8	chr18:44946400-44947200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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