Variant report

Variant	rs2404992
Chromosome Location	chr1:57103828-57103829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10749708	0.90[ASN][1000 genomes]
rs10789036	0.81[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10789038	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs10789040	0.88[ASN][1000 genomes]
rs10789041	0.85[ASN][1000 genomes]
rs10889006	0.90[ASN][1000 genomes]
rs10889008	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs10889009	0.88[ASN][1000 genomes]
rs11206872	0.88[EUR][1000 genomes]
rs11206884	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206885	0.90[ASN][1000 genomes]
rs11206886	0.94[ASN][1000 genomes]
rs11206888	0.90[ASN][1000 genomes]
rs11206889	0.92[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs11206890	0.92[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs11206895	0.88[ASN][1000 genomes]
rs11589368	0.88[ASN][1000 genomes]
rs11804779	0.88[ASN][1000 genomes]
rs12021768	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021851	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023668	0.88[ASN][1000 genomes]
rs12032999	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12046428	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12048572	0.88[ASN][1000 genomes]
rs12073311	0.88[ASN][1000 genomes]
rs12078260	0.89[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12092267	0.88[ASN][1000 genomes]
rs12097148	0.86[ASN][1000 genomes]
rs12121876	0.80[EUR][1000 genomes]
rs12738355	0.84[ASN][1000 genomes]
rs13374924	0.86[ASN][1000 genomes]
rs1418442	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1986660	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404718	0.90[ASN][1000 genomes]
rs2404986	0.88[EUR][1000 genomes]
rs2404987	0.88[EUR][1000 genomes]
rs2404993	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746353	0.86[ASN][1000 genomes]
rs2796517	0.84[ASN][1000 genomes]
rs2796519	0.92[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2796523	0.84[ASN][1000 genomes]
rs2796527	0.84[ASN][1000 genomes]
rs4548471	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4551620	0.90[ASN][1000 genomes]
rs4562656	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4568857	0.80[EUR][1000 genomes]
rs4584419	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59223968	0.90[ASN][1000 genomes]
rs61772962	0.90[ASN][1000 genomes]
rs61774285	0.87[EUR][1000 genomes]
rs61774287	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61774288	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6588641	0.90[ASN][1000 genomes]
rs72666470	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7419053	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7515414	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7519509	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7533440	0.81[ASN][1000 genomes]
rs7545066	0.85[ASN][1000 genomes]
rs7546264	0.88[ASN][1000 genomes]
rs7547486	0.90[ASN][1000 genomes]
rs932447	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs9887834	0.88[ASN][1000 genomes]
rs9887940	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57103200-57109000	Weak transcription	Fetal Heart	heart
2	chr1:57103800-57105800	Enhancers	Hela-S3	cervix

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