Variant report

Variant	rs2383046
Chromosome Location	chr9:17748960-17748961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10119271	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10122834	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10738488	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13301348	0.85[YRI][hapmap]
rs2031456	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2182082	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs2182091	0.88[JPT][hapmap]
rs2209424	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs2209426	0.81[ASW][hapmap];0.87[LWK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs2209427	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs2209429	0.81[ASW][hapmap];0.88[LWK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs2209431	0.83[ASN][1000 genomes]
rs2209432	0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2224954	0.88[JPT][hapmap]
rs2224955	0.83[ASN][1000 genomes]
rs2274216	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs2383047	0.90[ASW][hapmap];0.92[LWK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs2891112	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3780226	0.83[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs3808667	0.88[JPT][hapmap]
rs3808670	0.83[JPT][hapmap]
rs3808681	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs4348595	0.84[ASN][1000 genomes]
rs4961591	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4961593	0.94[CEU][hapmap];0.83[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs4961594	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4961595	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7026725	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7032090	0.88[LWK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs7032215	0.80[YRI][hapmap]
rs7041545	0.83[JPT][hapmap]
rs9298783	0.88[JPT][hapmap]
rs9407846	0.95[YRI][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
rs2383046	CNTLN	cis	cerebellum	SCAN
rs2383046	RRAGA	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17744000-17750200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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