Variant report

Variant	rs12654040
Chromosome Location	chr5:57000818-57000819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10057804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487615	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189365	0.81[ASN][1000 genomes]
rs12523004	0.81[EUR][1000 genomes]
rs12652479	0.83[CHD][hapmap]
rs12654351	1.00[ASN][1000 genomes]
rs12654963	0.81[ASN][1000 genomes]
rs12655658	0.98[ASN][1000 genomes]
rs12658940	1.00[ASN][1000 genomes]
rs13176491	0.85[AFR][1000 genomes]
rs16887298	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215419	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898027	0.81[EUR][1000 genomes]
rs58041565	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58266257	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59516621	0.91[ASN][1000 genomes]
rs59697426	0.81[ASN][1000 genomes]
rs61220614	0.91[ASN][1000 genomes]
rs62361169	0.81[EUR][1000 genomes]
rs6860385	0.86[AFR][1000 genomes]
rs6862527	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6894116	0.81[EUR][1000 genomes]
rs73089817	1.00[ASN][1000 genomes]
rs73089845	0.85[ASN][1000 genomes]
rs73089868	0.81[ASN][1000 genomes]
rs73089872	0.81[ASN][1000 genomes]
rs73089877	0.81[ASN][1000 genomes]
rs7713500	0.83[CHD][hapmap]
rs7714714	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717808	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729312	0.83[CHD][hapmap]
rs7734079	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734787	0.83[CHD][hapmap]
rs978225	0.86[AFR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56990200-57005600	Weak transcription	NH-A	brain
2	chr5:56992400-57004400	Weak transcription	Left Ventricle	heart
3	chr5:56996400-57001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:56996600-57001000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:56996800-57005400	Weak transcription	Fetal Lung	lung
6	chr5:56999600-57001200	Enhancers	NHEK	skin
7	chr5:57000400-57001000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:57000600-57001800	Enhancers	HUVEC	blood vessel
9	chr5:57000800-57001200	Enhancers	Primary T cells from cord blood	blood

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