Variant report

Variant	rs9539187
Chromosome Location	chr13:62061368-62061369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs4277248	0.81[ASN][1000 genomes]
rs4499128	0.81[ASN][1000 genomes]
rs7325869	0.83[ASN][1000 genomes]
rs7335749	0.92[ASW][hapmap];0.84[LWK][hapmap];0.90[YRI][hapmap]
rs8002097	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9528340	0.85[ASN][1000 genomes]
rs9539159	0.92[ASW][hapmap];0.87[LWK][hapmap];0.90[YRI][hapmap]
rs9539174	0.85[ASN][1000 genomes]
rs9539176	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9539177	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9539178	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9563920	0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9563921	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9563922	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9563923	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9563924	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9563925	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570582	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570584	0.88[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570585	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570586	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570587	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570588	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9570589	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570590	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570591	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9570593	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9598274	0.93[GIH][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948661	chr13:61906251-62179649	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2761266	chr13:61928642-62690828	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv832628	chr13:61985540-62153692	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv948810	chr13:62003256-62968196	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1054037	chr13:62058336-62094775	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9539187	DIAPH3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62060800-62061600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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