Variant report

Variant	rs1536068
Chromosome Location	chr9:17795940-17795941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10448159	0.91[CEU][hapmap]
rs10491540	0.82[CEU][hapmap]
rs10810850	0.82[CEU][hapmap]
rs10963258	0.82[CEU][hapmap]
rs10963267	0.82[CEU][hapmap]
rs10963268	0.82[CEU][hapmap]
rs10963270	0.86[CEU][hapmap]
rs10963272	0.86[CEU][hapmap]
rs1114790	0.91[CEU][hapmap]
rs12000021	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12377526	0.86[CEU][hapmap]
rs12378332	0.86[CEU][hapmap]
rs12380227	0.95[CEU][hapmap]
rs35187055	0.91[ASN][1000 genomes]
rs3808661	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3808663	0.96[ASN][1000 genomes]
rs71504872	1.00[ASN][1000 genomes]
rs71504873	1.00[ASN][1000 genomes]
rs7860719	1.00[ASN][1000 genomes]
rs9406731	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9406732	0.96[ASN][1000 genomes]
rs9406733	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs9406734	1.00[CEU][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9406736	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9406737	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9407877	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9407878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9407879	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9407880	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9407881	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9407882	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9407883	0.96[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	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
2	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
3	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
4	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
5	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
rs1536068	SH3GL2	cis	cerebellar cortex	BrainEAC
rs1536068	SH3GL2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17784800-17799400	Weak transcription	Hela-S3	cervix
2	chr9:17787000-17800400	Weak transcription	Fetal Brain Female	brain
3	chr9:17788600-17805400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:17794200-17799400	Weak transcription	Fetal Brain Male	brain
5	chr9:17795000-17797200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:17795400-17796200	Strong transcription	Brain Germinal Matrix	brain
7	chr9:17795400-17796600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:17795600-17796000	ZNF genes & repeats	Aorta	Aorta
9	chr9:17795800-17796200	Enhancers	Osteobl	bone

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