Variant report

Variant	rs12546226
Chromosome Location	chr8:67228500-67228501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11994464	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12541169	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543948	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12546108	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12547088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674856	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12676571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932794	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16932797	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737226	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4737778	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4737781	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56336230	0.86[ASN][1000 genomes]
rs57145208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58426145	0.83[EUR][1000 genomes]
rs58730001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60505214	0.83[EUR][1000 genomes]
rs62511162	0.83[EUR][1000 genomes]
rs62511185	0.83[EUR][1000 genomes]
rs62511883	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62511907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62511940	0.83[EUR][1000 genomes]
rs62512577	0.83[EUR][1000 genomes]
rs62512578	0.83[EUR][1000 genomes]
rs62512580	0.83[EUR][1000 genomes]
rs62512583	0.83[EUR][1000 genomes]
rs62512584	0.83[EUR][1000 genomes]
rs62512585	0.83[EUR][1000 genomes]
rs62512589	0.83[EUR][1000 genomes]
rs6982433	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6986855	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002969	1.00[EUR][1000 genomes]
rs7010810	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7010964	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7016951	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7819028	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839868	0.86[ASN][1000 genomes]
rs7840104	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643397	0.88[AMR][1000 genomes];0.92[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6235	chr8:67188081-67232737	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67204400-67232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67227800-67228600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:67227800-67228600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:67227800-67228600	Enhancers	HepG2	liver
5	chr8:67227800-67228600	Enhancers	HSMM	muscle
6	chr8:67227800-67228600	Enhancers	NHDF-Ad	bronchial
7	chr8:67228000-67228600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:67228000-67228600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:67228200-67228600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:67228200-67228600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:67228200-67228600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:67228400-67228600	Flanking Active TSS	Liver	Liver
13	chr8:67228400-67228800	Enhancers	A549	lung

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