Variant report

Variant	rs1507667
Chromosome Location	chr2:123854942-123854943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10178398	0.83[EUR][1000 genomes]
rs1154995	0.92[EUR][1000 genomes]
rs1160010	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1160011	0.92[EUR][1000 genomes]
rs12620936	0.91[EUR][1000 genomes]
rs13005367	0.83[EUR][1000 genomes]
rs13031371	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs1395931	0.81[CEU][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs1606802	0.83[EUR][1000 genomes]
rs188493	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2063800	0.84[TSI][hapmap]
rs2138170	0.90[EUR][1000 genomes]
rs2244129	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2248895	0.89[EUR][1000 genomes]
rs2419071	0.92[EUR][1000 genomes]
rs2458994	0.91[EUR][1000 genomes]
rs2661001	0.90[EUR][1000 genomes]
rs2661032	0.91[EUR][1000 genomes]
rs2661035	0.91[EUR][1000 genomes]
rs2661036	0.86[EUR][1000 genomes]
rs2661041	0.91[EUR][1000 genomes]
rs2661043	0.90[EUR][1000 genomes]
rs2661044	0.90[EUR][1000 genomes]
rs2661045	0.90[EUR][1000 genomes]
rs2673182	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2673185	0.88[CEU][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2673187	0.91[EUR][1000 genomes]
rs2673188	0.91[EUR][1000 genomes]
rs2673189	0.91[EUR][1000 genomes]
rs2673194	0.92[EUR][1000 genomes]
rs2673196	0.90[EUR][1000 genomes]
rs2900804	0.92[EUR][1000 genomes]
rs299536	0.91[EUR][1000 genomes]
rs299539	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs299540	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs299542	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs299544	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs299545	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs299546	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs299548	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs299549	0.91[EUR][1000 genomes]
rs299550	0.91[EUR][1000 genomes]
rs299551	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs299553	0.91[EUR][1000 genomes]
rs299560	0.91[EUR][1000 genomes]
rs299561	0.95[EUR][1000 genomes]
rs299562	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36131743	0.86[EUR][1000 genomes]
rs4848824	0.84[EUR][1000 genomes]
rs6747893	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9636359	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492280	chr2:123447662-123973577	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2760647	chr2:123678437-124619697	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1010200	chr2:123816326-123887210	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1507667	CNTNAP5	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123852000-123856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:123853400-123855600	Weak transcription	Fetal Kidney	kidney
3	chr2:123853600-123855600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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