Variant report

Variant	rs12545085
Chromosome Location	chr8:38980869-38980870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10958535	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10958537	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541095	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12542529	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543388	0.87[AMR][1000 genomes]
rs12548416	0.87[AMR][1000 genomes]
rs12549232	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13274715	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34002881	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34070223	0.87[AMR][1000 genomes]
rs34382496	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34494323	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35275553	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35335280	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35935390	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36042872	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4236755	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4236757	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4292654	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4308699	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324895	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531014	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4590405	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4593506	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4601278	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733979	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733980	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733981	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6474108	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6474109	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9650326	0.83[EUR][1000 genomes];0.86[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	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38971200-38981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:38971200-38985400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:38971200-39036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:38978600-38989400	Weak transcription	Aorta	Aorta
5	chr8:38979200-39001000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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