Variant report

Variant	rs13171950
Chromosome Location	chr5:119737139-119737140
allele	C/T
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:37)

rs_ID	r²[population]
rs10036322	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10052468	0.81[AMR][1000 genomes]
rs10058597	0.81[AMR][1000 genomes]
rs10478464	0.83[EUR][1000 genomes]
rs1108712	0.83[AMR][1000 genomes]
rs13158141	1.00[ASN][1000 genomes]
rs13161485	1.00[ASN][1000 genomes]
rs13172224	1.00[ASN][1000 genomes]
rs13357775	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1347070	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1368189	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1394115	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1432456	0.81[AMR][1000 genomes]
rs1432457	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432464	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2082353	0.83[EUR][1000 genomes]
rs2082356	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2116606	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2897244	0.83[AMR][1000 genomes]
rs35399227	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4895246	0.83[AMR][1000 genomes]
rs4895249	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895250	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59264625	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59336675	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6595232	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6865215	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6878266	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6895493	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7446731	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs753641	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7701804	0.83[EUR][1000 genomes]
rs7713691	0.82[AMR][1000 genomes]
rs7718509	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7727978	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9327141	0.84[AMR][1000 genomes]
rs982827	0.82[AMR][1000 genomes];0.91[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	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119735400-119740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119735600-119737200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:119735800-119744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:119736400-119740200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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