Variant report

Variant	rs6047730
Chromosome Location	chr20:21897493-21897494
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1007169	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11699227	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1555264	0.80[EUR][1000 genomes]
rs1555265	0.80[EUR][1000 genomes]
rs169311	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1884588	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1884589	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1884590	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1884595	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1980571	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1986765	0.81[EUR][1000 genomes]
rs1988545	0.81[EUR][1000 genomes]
rs2024885	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2208050	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2208051	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2208054	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2208055	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2254540	0.81[EUR][1000 genomes]
rs2281526	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2328680	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328681	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328682	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328684	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2424418	0.81[EUR][1000 genomes]
rs2424419	0.81[EUR][1000 genomes]
rs2424421	0.80[EUR][1000 genomes]
rs2424423	0.81[AMR][1000 genomes]
rs3818179	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3818180	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3818181	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3818182	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3818183	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4390829	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6035988	0.89[AMR][1000 genomes]
rs6036003	0.80[EUR][1000 genomes]
rs6047714	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6047715	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6047727	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6047728	0.89[AMR][1000 genomes]
rs6047729	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6047731	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6047732	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047733	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6047743	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047744	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047745	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047748	0.84[AMR][1000 genomes]
rs6047749	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6047768	0.81[EUR][1000 genomes]
rs6047769	0.80[EUR][1000 genomes]
rs6075858	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6075861	0.81[EUR][1000 genomes]
rs6082556	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6082560	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6113415	0.83[ASN][1000 genomes]
rs6113416	0.83[ASN][1000 genomes]
rs6113418	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113424	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113425	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113431	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113435	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137476	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6515191	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs927059	0.90[AMR][1000 genomes];0.83[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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912814	chr20:21703615-21946928	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv585714	chr20:21863397-21918447	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	n/a
4	nsv1061217	chr20:21875728-21906483	Weak transcription Enhancers ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	n/a
5	nsv912815	chr20:21884693-21953649	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21897200-21897600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr20:21897400-21906000	Weak transcription	H9 Cell Line	embryonic stem cell

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