Variant report

Variant	rs10513194
Chromosome Location	chr5:15002489-15002490
allele	C/G
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:30)

rs_ID	r²[population]
rs10044822	0.90[ASN][1000 genomes]
rs10044904	0.88[ASN][1000 genomes]
rs10044907	0.90[ASN][1000 genomes]
rs10044908	0.90[ASN][1000 genomes]
rs10866509	0.82[EUR][1000 genomes]
rs11744215	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903773	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903778	0.89[ASN][1000 genomes]
rs57219003	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62356077	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62356079	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62356081	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6864877	0.88[ASN][1000 genomes]
rs6867275	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6877954	0.89[ASN][1000 genomes]
rs6878138	0.87[ASN][1000 genomes]
rs6878288	0.89[ASN][1000 genomes]
rs6878430	0.89[ASN][1000 genomes]
rs73053946	0.88[ASN][1000 genomes]
rs73053947	0.88[ASN][1000 genomes]
rs73053951	0.89[ASN][1000 genomes]
rs73053957	0.89[ASN][1000 genomes]
rs7341022	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7341067	0.87[ASN][1000 genomes]
rs7341168	0.89[ASN][1000 genomes]
rs7708423	0.94[CEU][hapmap]
rs7708528	0.88[CEU][hapmap]
rs7727179	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9312876	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686327	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv524142	chr5:14986700-15018537	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	5 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	chr5:14994600-15008600	Weak transcription	Placenta	Placenta
2	chr5:14999800-15002800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr5:15000200-15003800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:15000200-15007800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:15000800-15003800	Weak transcription	HepG2	liver
6	chr5:15001200-15002800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:15001200-15005200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:15001400-15008600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:15001800-15004000	Enhancers	Osteobl	bone
10	chr5:15002000-15002600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:15002200-15003800	Enhancers	Fetal Heart	heart
12	chr5:15002400-15002600	Enhancers	Left Ventricle	heart
13	chr5:15002400-15003200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:15002400-15005000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:15002400-15005200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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