Variant report

Variant	rs2875118
Chromosome Location	chr17:15269316-15269317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12937472	0.89[ASN][1000 genomes]
rs230888	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs230901	0.81[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap]
rs230904	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs230907	0.81[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap]
rs230909	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs230910	0.81[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap]
rs230970	0.82[ASN][1000 genomes]
rs34174662	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36023606	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372882	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs394106	0.81[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap]
rs395945	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs396445	0.86[JPT][hapmap]
rs399666	0.81[CHB][hapmap]
rs401664	0.84[JPT][hapmap]
rs406112	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs414494	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs417637	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs427476	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs427531	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs433068	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs433993	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs446597	0.81[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]

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	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2875118	PIGL	cis	cerebellum	SCAN
rs2875118	SHISA6	cis	parietal	SCAN
rs2875118	UBB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15269000-15271800	Weak transcription	Fetal Intestine Large	intestine

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