Variant report

Variant	rs6733858
Chromosome Location	chr2:190464736-190464737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10177654	0.94[EUR][1000 genomes]
rs10188680	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs11694919	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12465298	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619013	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12986707	1.00[ASW][hapmap]
rs13012833	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1347708	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1370593	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1437885	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17198983	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2352267	0.92[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2352270	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666778	0.81[EUR][1000 genomes]
rs6712505	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6718734	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718798	0.96[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6741965	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7590106	0.96[CEU][hapmap];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6733858	C21orf33	trans	brain	seeQTL
rs6733858	PADI1	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190463800-190464800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:190464000-190464800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:190464200-190465000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:190464200-190465000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:190464200-190465800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:190464400-190464800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:190464400-190465200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:190464400-190465800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:190464400-190467000	Weak transcription	K562	blood
10	chr2:190464600-190464800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:190464600-190465200	Enhancers	Placenta	Placenta
12	chr2:190464600-190465400	Enhancers	NHDF-Ad	bronchial

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

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