Variant report

Variant	rs7714965
Chromosome Location	chr5:119718607-119718608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10036536	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052468	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10058597	0.90[EUR][1000 genomes]
rs10059974	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10072828	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1108712	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13158141	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13161485	0.82[EUR][1000 genomes]
rs13172224	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13357775	0.82[EUR][1000 genomes]
rs13435941	0.84[EUR][1000 genomes]
rs1347070	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs1368182	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs1368189	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1368191	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432454	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1432456	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1432457	0.83[EUR][1000 genomes]
rs1432458	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1432464	0.81[EUR][1000 genomes]
rs17146501	0.95[EUR][1000 genomes]
rs17488124	1.00[ASN][1000 genomes]
rs1835870	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2082356	0.81[EUR][1000 genomes]
rs2116606	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2897244	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35399227	0.81[EUR][1000 genomes]
rs4499860	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4895246	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4895247	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4895248	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4895249	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4895250	0.83[EUR][1000 genomes]
rs58274987	0.89[EUR][1000 genomes]
rs59264625	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59336675	0.80[EUR][1000 genomes]
rs6595225	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6595232	0.81[EUR][1000 genomes]
rs6863943	0.89[EUR][1000 genomes]
rs6865215	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6896794	0.92[EUR][1000 genomes]
rs6899092	0.89[EUR][1000 genomes]
rs72784177	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72784183	1.00[ASN][1000 genomes]
rs72784184	1.00[ASN][1000 genomes]
rs72784190	1.00[ASN][1000 genomes]
rs7379429	0.86[EUR][1000 genomes]
rs753641	0.81[EUR][1000 genomes]
rs7709140	0.89[EUR][1000 genomes]
rs7713691	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7718509	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7722765	0.89[EUR][1000 genomes]
rs9327141	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs982827	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv527509	chr5:119697716-119724069	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119715400-119723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119718000-119719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:119718400-119719200	Enhancers	Dnd41	blood
4	chr5:119718600-119718800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:119718600-119719000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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