Variant report

Variant	rs57091259
Chromosome Location	chr5:74387469-74387470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74379971..74382375-chr5:74387089..74390026,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11952940	1.00[EUR][1000 genomes]
rs11955901	0.84[EUR][1000 genomes]
rs11956613	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11959556	1.00[EUR][1000 genomes]
rs57128332	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57155346	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57350864	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57923199	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58869372	1.00[EUR][1000 genomes]
rs59226666	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59388080	0.84[EUR][1000 genomes]
rs59641773	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59992948	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs60342717	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60349474	0.84[EUR][1000 genomes]
rs6870950	1.00[EUR][1000 genomes]
rs6893867	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894556	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6895538	1.00[EUR][1000 genomes]
rs6898122	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73114819	1.00[EUR][1000 genomes]
rs73114824	1.00[EUR][1000 genomes]
rs73114825	1.00[EUR][1000 genomes]
rs73114836	1.00[EUR][1000 genomes]
rs73114854	1.00[EUR][1000 genomes]
rs73116837	1.00[EUR][1000 genomes]
rs73116843	1.00[EUR][1000 genomes]
rs73116846	1.00[EUR][1000 genomes]
rs73127360	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73127366	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73127392	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129052	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73131026	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73131031	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73131051	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73131069	1.00[EUR][1000 genomes]
rs7717760	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7720035	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7722905	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv882189	chr5:74356857-74478078	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74384400-74388600	Enhancers	HMEC	breast
2	chr5:74384800-74387600	Enhancers	NHEK	skin
3	chr5:74385200-74388600	Enhancers	Hela-S3	cervix
4	chr5:74386200-74387600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:74386600-74387600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:74386600-74387800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr5:74386800-74388200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:74386800-74388400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:74386800-74388600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:74387000-74387600	Enhancers	Primary T cells from cord blood	blood
11	chr5:74387000-74388400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:74387400-74387600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:74387400-74387600	Enhancers	HSMM	muscle
14	chr5:74387400-74388000	Enhancers	Fetal Thymus	thymus
15	chr5:74387400-74388000	Enhancers	Thymus	Thymus

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