Variant report

Variant	rs2133688
Chromosome Location	chr12:30631624-30631625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10771711	1.00[ASN][1000 genomes]
rs1354713	1.00[ASN][1000 genomes]
rs1506386	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1506389	1.00[ASN][1000 genomes]
rs1506390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506393	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553231	1.00[ASN][1000 genomes]
rs1588006	1.00[ASN][1000 genomes]
rs1848021	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs354098	1.00[ASN][1000 genomes]
rs4564414	1.00[ASN][1000 genomes]
rs4931336	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6487916	1.00[ASN][1000 genomes]
rs6487917	1.00[ASN][1000 genomes]
rs7301701	1.00[ASN][1000 genomes]
rs7302894	1.00[ASN][1000 genomes]
rs7311808	1.00[ASN][1000 genomes]
rs7958461	1.00[ASN][1000 genomes]
rs7978135	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2133688	IPO8	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30624800-30635400	Weak transcription	Liver	Liver
2	chr12:30631600-30631800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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

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