Variant report

Variant	rs6993966
Chromosome Location	chr8:54353021-54353022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088812	0.84[ASN][1000 genomes]
rs10089658	0.94[ASN][1000 genomes]
rs10101861	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10103617	0.84[ASN][1000 genomes]
rs10105375	0.83[ASN][1000 genomes]
rs10216984	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958358	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10958365	0.94[ASN][1000 genomes]
rs10958367	0.84[ASN][1000 genomes]
rs10958368	0.83[ASN][1000 genomes]
rs12235032	0.83[ASN][1000 genomes]
rs12542325	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544025	0.84[ASN][1000 genomes]
rs12546500	0.84[ASN][1000 genomes]
rs13251975	0.84[ASN][1000 genomes]
rs13262157	0.94[ASN][1000 genomes]
rs13265261	0.84[ASN][1000 genomes]
rs1351064	0.86[ASN][1000 genomes]
rs1477948	0.83[ASN][1000 genomes]
rs1477971	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1477973	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1477977	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1477978	0.84[ASN][1000 genomes]
rs1477980	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1551915	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2376147	0.82[ASN][1000 genomes]
rs4581080	0.82[EUR][1000 genomes]
rs6473825	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6473826	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6982097	0.87[ASN][1000 genomes]
rs6989685	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7001883	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7007299	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835893	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3407557	chr8:54348448-54395357	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54340000-54354400	Weak transcription	Aorta	Aorta

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