Variant report

Variant	rs59516621
Chromosome Location	chr5:57006307-57006308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10057804	0.91[ASN][1000 genomes]
rs10077188	0.83[EUR][1000 genomes]
rs10487615	0.91[ASN][1000 genomes]
rs12153068	1.00[EUR][1000 genomes]
rs12189365	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12652479	0.83[EUR][1000 genomes]
rs12654040	0.91[ASN][1000 genomes]
rs12654351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12654850	0.83[EUR][1000 genomes]
rs12654963	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12655658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12658940	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16887298	0.91[ASN][1000 genomes]
rs2215419	0.89[ASN][1000 genomes]
rs4700209	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58041565	1.00[ASN][1000 genomes]
rs58245968	0.95[EUR][1000 genomes]
rs58266257	0.91[ASN][1000 genomes]
rs59697426	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60219417	0.89[EUR][1000 genomes]
rs61220614	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862527	1.00[ASN][1000 genomes]
rs6876911	0.89[EUR][1000 genomes]
rs6883451	0.95[EUR][1000 genomes]
rs6883485	0.95[EUR][1000 genomes]
rs73085594	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089817	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73089845	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73089868	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73089872	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73089877	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73089897	0.83[EUR][1000 genomes]
rs7714714	0.91[ASN][1000 genomes]
rs7717808	0.91[ASN][1000 genomes]
rs7734079	0.91[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	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57001000-57012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:57005200-57009400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:57005400-57006800	Enhancers	Fetal Lung	lung
4	chr5:57005600-57007200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:57005600-57007600	Enhancers	Ovary	ovary
6	chr5:57005800-57006400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:57005800-57006600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:57006000-57006400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:57006000-57006600	Enhancers	Osteobl	bone
10	chr5:57006000-57006800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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