Variant report

Variant	rs2383047
Chromosome Location	chr9:17751559-17751560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10810847	0.83[CHD][hapmap]
rs13301348	0.83[CHB][hapmap];0.90[YRI][hapmap]
rs17454653	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs2209426	0.89[ASW][hapmap];0.87[LWK][hapmap];0.84[YRI][hapmap]
rs2209427	0.84[YRI][hapmap]
rs2209429	0.89[ASW][hapmap];0.88[LWK][hapmap];0.90[YRI][hapmap]
rs2383046	0.90[ASW][hapmap];0.92[LWK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs2891112	0.84[AFR][1000 genomes]
rs3808668	0.92[CHB][hapmap]
rs3808669	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs3808676	0.92[CHB][hapmap]
rs3808678	0.83[CHB][hapmap]
rs3824371	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs4302941	0.85[CHD][hapmap]
rs4961593	0.89[CHD][hapmap]
rs4961595	0.84[YRI][hapmap]
rs7032090	0.88[LWK][hapmap];0.84[YRI][hapmap]
rs7032215	0.85[YRI][hapmap]
rs7868881	0.84[ASN][1000 genomes]
rs9406697	0.82[CHB][hapmap]
rs9406699	0.92[CHB][hapmap];0.82[CHD][hapmap]
rs9406700	0.92[CHB][hapmap]
rs9406702	0.92[CHB][hapmap]
rs9406703	0.92[CHB][hapmap]
rs9406704	0.83[CHB][hapmap]
rs9406706	0.92[CHB][hapmap]
rs9406707	1.00[CHB][hapmap]
rs9406708	0.92[CHB][hapmap];0.82[CHD][hapmap]
rs9406709	0.92[CHB][hapmap];0.81[CHD][hapmap]
rs9406710	0.83[CHB][hapmap]
rs9406712	0.82[CHB][hapmap]
rs9406714	0.92[CHB][hapmap]
rs9406716	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs9406717	0.86[CHB][hapmap]
rs9406719	0.92[CHB][hapmap]
rs9406720	1.00[CHB][hapmap]
rs9406723	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs9406724	0.92[CHB][hapmap];0.82[CHD][hapmap]
rs9406725	0.92[CHB][hapmap]
rs9406726	0.92[CHB][hapmap]
rs9406727	0.92[CHB][hapmap]
rs9407837	0.83[CHB][hapmap]
rs9407838	1.00[CHB][hapmap]
rs9407839	0.92[CHB][hapmap]
rs9407846	0.90[YRI][hapmap]
rs9407849	0.92[CHB][hapmap]
rs9407850	0.92[CHB][hapmap]
rs9407851	0.92[CHB][hapmap]
rs9407852	0.92[CHB][hapmap];0.82[CHD][hapmap]
rs9407854	0.92[CHB][hapmap]
rs9407855	0.92[CHB][hapmap]
rs9407856	0.92[CHB][hapmap];0.82[CHD][hapmap]
rs9407857	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs9407859	0.92[CHB][hapmap]
rs9407860	1.00[CHB][hapmap]
rs9407861	0.92[CHB][hapmap]
rs9407862	1.00[CHB][hapmap]
rs9407863	0.92[CHB][hapmap]
rs9407864	0.92[CHB][hapmap]
rs9407865	0.92[CHB][hapmap]
rs9407866	0.92[CHB][hapmap]
rs9407867	0.92[CHB][hapmap]
rs9407869	0.92[CHB][hapmap]
rs9407870	0.92[CHB][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	nsv892675	chr9:17694823-17790526	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv613706	chr9:17718918-18090934	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv613707	chr9:17720175-18070475	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv613708	chr9:17720175-18072085	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1033892	chr9:17734224-17757581	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv1034673	chr9:17739006-17916606	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1023089	chr9:17748811-17919574	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2383047	SH3GL2	cis	parietal	SCAN
rs2383047	COL19A1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17750800-17751800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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