Variant report

Variant	rs17056258
Chromosome Location	chr13:38189358-38189359
allele	C/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:31)

rs_ID	r²[population]
rs11840960	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12428760	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12585355	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17056105	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1924293	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35092366	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41473348	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57400150	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59664730	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60396302	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6563562	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73452525	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73452550	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73452553	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73452556	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7997479	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9532083	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9547948	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9547949	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9547950	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9547952	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9547955	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9547956	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9547971	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9547972	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9547973	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9547975	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9547982	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547984	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547993	0.83[EUR][1000 genomes]
rs9547995	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv430553	chr13:38184100-38203200	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38177000-38190400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:38184000-38189400	Weak transcription	Osteobl	bone
3	chr13:38188000-38189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:38188400-38189800	Weak transcription	NHDF-Ad	bronchial
5	chr13:38189000-38189800	Enhancers	NHEK	skin
6	chr13:38189200-38191000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:38189200-38192400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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