Variant report

Variant	rs12318365
Chromosome Location	chr12:44352760-44352761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11182326	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11182328	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11182332	0.91[ASN][1000 genomes]
rs11182345	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11829881	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12301015	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12303804	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12309681	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12315094	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12578394	0.88[ASN][1000 genomes]
rs17093971	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4238092	0.98[ASN][1000 genomes]
rs59709721	0.95[ASN][1000 genomes]
rs73085705	0.91[ASN][1000 genomes]
rs7308588	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969641	0.88[AMR][1000 genomes];0.97[ASN][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44332200-44353200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:44343600-44359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44343600-44363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
6	chr12:44346000-44357800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44346200-44363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44352000-44353800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:44352000-44363400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	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