Variant report

Variant	rs12233450
Chromosome Location	chr3:143427040-143427041
allele	G/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:15)

rs_ID	r²[population]
rs1122452	0.82[ASN][1000 genomes]
rs11919382	0.82[ASN][1000 genomes]
rs12493345	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1562495	0.81[ASN][1000 genomes]
rs1900647	0.81[ASN][1000 genomes]
rs1900648	0.82[ASN][1000 genomes]
rs2800	0.80[CHD][hapmap];0.81[ASN][1000 genomes]
rs2801	0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs4240552	0.81[CHD][hapmap];0.80[ASN][1000 genomes]
rs4839655	0.81[ASN][1000 genomes]
rs56126118	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56231817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440185	0.80[ASN][1000 genomes]
rs7625330	0.81[ASN][1000 genomes]
rs9828519	0.82[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3411176	chr3:143423880-143457059	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1012559	chr3:143424787-143444900	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143394200-143470200	Weak transcription	Primary B cells from cord blood	blood
2	chr3:143418000-143431200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:143418800-143428600	Weak transcription	Brain Angular Gyrus	brain
4	chr3:143419200-143428400	Weak transcription	Brain Anterior Caudate	brain
5	chr3:143425400-143427600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:143426400-143427400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:143426600-143427200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr3:143426600-143427400	Enhancers	HSMMtube	muscle
9	chr3:143426800-143427400	Enhancers	Esophagus	oesophagus
10	chr3:143426800-143427400	Enhancers	Psoas Muscle	Psoas
11	chr3:143427000-143427200	Enhancers	Brain Hippocampus Middle	brain
12	chr3:143427000-143428400	Weak transcription	Brain Cingulate Gyrus	brain

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