Variant report

Variant	rs60379059
Chromosome Location	chr13:51048404-51048405
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51042795..51044976-chr13:51046435..51049054,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1028862	0.84[EUR][1000 genomes]
rs10492410	0.81[ASN][1000 genomes]
rs12428087	0.84[EUR][1000 genomes]
rs12428189	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12431131	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1327644	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1359860	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17074346	0.83[EUR][1000 genomes]
rs17074358	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1924372	0.84[EUR][1000 genomes]
rs56023535	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56075206	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58633776	0.86[EUR][1000 genomes]
rs61962133	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61962135	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61964386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67618912	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs719103	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7327154	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7983762	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7996632	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8000329	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8000875	0.84[EUR][1000 genomes]
rs8000921	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9316496	0.81[ASN][1000 genomes]
rs9316497	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9562962	0.84[EUR][1000 genomes]
rs9562964	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9562965	0.80[EUR][1000 genomes]
rs9562966	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9562967	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9562968	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9562970	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9562972	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9562973	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9562974	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562975	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9562976	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562980	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9562981	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9562982	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568397	0.84[EUR][1000 genomes]
rs9568398	0.84[EUR][1000 genomes]
rs9568400	0.82[EUR][1000 genomes]
rs9568401	0.84[EUR][1000 genomes]
rs9568402	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9568403	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568404	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9568406	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9568407	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568408	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568409	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568410	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9568412	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9568413	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9568414	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9568415	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9568416	0.85[EUR][1000 genomes]
rs9568417	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568418	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568422	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568423	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568424	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568426	0.84[EUR][1000 genomes]
rs9568427	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568428	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568429	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568430	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568431	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568433	0.84[EUR][1000 genomes]
rs9634832	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9634833	0.80[AMR][1000 genomes]
rs9634834	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv983685	chr13:51038887-51048899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv526482	chr13:51042258-51065836	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51030600-51050000	Weak transcription	Fetal Lung	lung
2	chr13:51041800-51060600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:51048000-51048800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:51048000-51049000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:51048200-51048600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:51048200-51048600	Weak transcription	Right Ventricle	heart
7	chr13:51048200-51048800	Enhancers	NHDF-Ad	bronchial
8	chr13:51048400-51048800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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