Variant report

Variant	rs12517869
Chromosome Location	chr5:42302188-42302189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10054119	0.86[ASN][1000 genomes]
rs10078980	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10461736	0.93[ASN][1000 genomes]
rs10462034	0.93[ASN][1000 genomes]
rs12153093	0.93[ASN][1000 genomes]
rs12520405	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13189999	0.87[ASN][1000 genomes]
rs16872537	1.00[EUR][1000 genomes]
rs16872543	1.00[EUR][1000 genomes]
rs1876789	0.83[ASN][1000 genomes]
rs28943877	1.00[EUR][1000 genomes]
rs34813199	0.83[ASN][1000 genomes]
rs35707555	0.93[ASN][1000 genomes]
rs36072701	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4305644	0.93[ASN][1000 genomes]
rs4866795	1.00[EUR][1000 genomes]
rs4866812	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4866896	1.00[EUR][1000 genomes]
rs4866901	1.00[EUR][1000 genomes]
rs6861819	0.93[ASN][1000 genomes]
rs6882434	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6882555	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6887373	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6887391	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6887759	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6888449	0.87[ASN][1000 genomes]
rs73091966	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73091974	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7379247	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7380353	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7380870	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949559	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9654394	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	esv1825573	chr5:42229421-42306381	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880518	chr5:42231896-42375243	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv881090	chr5:42254097-42307714	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	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	chr5:42300600-42303000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:42300800-42302800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:42301000-42302400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:42301000-42302600	Enhancers	NHDF-Ad	bronchial
5	chr5:42301000-42302800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:42301200-42302200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:42301200-42302400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:42301400-42303000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:42301600-42305600	Weak transcription	Adipose Nuclei	Adipose
10	chr5:42301800-42302200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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