Variant report

Variant	rs12816066
Chromosome Location	chr12:30932900-30932901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs12578147	0.89[EUR][1000 genomes]
rs12579566	0.81[EUR][1000 genomes]
rs12582455	0.89[EUR][1000 genomes]
rs12816743	0.89[EUR][1000 genomes]
rs12817992	0.89[EUR][1000 genomes]
rs12820114	0.89[EUR][1000 genomes]
rs12823802	0.89[EUR][1000 genomes]
rs12826337	0.89[EUR][1000 genomes]
rs12828190	0.88[EUR][1000 genomes]
rs1438908	0.89[EUR][1000 genomes]
rs2114899	0.89[EUR][1000 genomes]
rs2195236	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34689120	0.88[EUR][1000 genomes]
rs35960583	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71440920	0.89[EUR][1000 genomes]
rs7312385	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv34091	chr12:30927650-31061815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12816066	IPO8	Cis_1M	lymphoblastoid	RTeQTL
rs12816066	IPO8	cis	cerebellum	SCAN
rs12816066	IPO8	cis	Artery Tibial	GTEx
rs12816066	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30929600-30935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:30931600-30933000	Enhancers	K562	blood
3	chr12:30932400-30933000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:30932800-30933200	Weak transcription	Pancreas	Pancrea

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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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