Variant report

Variant	rs1348725
Chromosome Location	chr8:120531581-120531582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10086941	0.86[EUR][1000 genomes]
rs10087213	0.89[EUR][1000 genomes]
rs10087316	0.89[EUR][1000 genomes]
rs10087415	0.89[EUR][1000 genomes]
rs10094917	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095019	0.90[EUR][1000 genomes]
rs10095956	0.89[EUR][1000 genomes]
rs10105471	0.90[EUR][1000 genomes]
rs10107512	0.86[EUR][1000 genomes]
rs10112143	0.86[EUR][1000 genomes]
rs10505364	0.83[EUR][1000 genomes]
rs11774319	0.89[EUR][1000 genomes]
rs11777943	0.88[EUR][1000 genomes]
rs11784751	0.80[EUR][1000 genomes]
rs12544624	0.90[EUR][1000 genomes]
rs1348724	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1374094	0.91[ASN][1000 genomes]
rs1599475	0.85[EUR][1000 genomes]
rs17190725	0.86[EUR][1000 genomes]
rs17793468	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17793498	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17793803	0.82[EUR][1000 genomes]
rs17794271	0.89[EUR][1000 genomes]
rs1838746	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1992722	0.86[EUR][1000 genomes]
rs1992723	0.85[EUR][1000 genomes]
rs1992724	0.85[EUR][1000 genomes]
rs2017336	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326260	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2326261	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2326262	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28575764	0.86[EUR][1000 genomes]
rs28612171	0.86[EUR][1000 genomes]
rs28673148	0.85[EUR][1000 genomes]
rs2875886	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2875887	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4292719	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4549811	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870796	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4870797	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4870798	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871265	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871279	0.82[EUR][1000 genomes]
rs6469825	0.95[JPT][hapmap]
rs6469828	0.83[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs6469829	0.84[EUR][1000 genomes]
rs6980719	0.82[EUR][1000 genomes]
rs6982983	0.85[EUR][1000 genomes]
rs6982993	0.85[EUR][1000 genomes]
rs6983616	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991181	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6996111	0.83[EUR][1000 genomes]
rs6996588	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7000655	0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs7000665	0.94[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7003326	0.85[EUR][1000 genomes]
rs7003949	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7005633	0.88[EUR][1000 genomes]
rs7009369	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7009858	0.89[EUR][1000 genomes]
rs7010158	0.83[EUR][1000 genomes]
rs7013085	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7013099	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7013103	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7013650	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7013726	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7013970	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7014095	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7014564	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7016637	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016811	0.90[EUR][1000 genomes]
rs72686368	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72686373	0.86[EUR][1000 genomes]
rs72686376	0.89[EUR][1000 genomes]
rs73713855	0.85[EUR][1000 genomes]
rs7813722	0.86[EUR][1000 genomes]
rs7816665	0.90[EUR][1000 genomes]
rs7825776	0.81[EUR][1000 genomes]
rs7827684	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7830059	0.86[EUR][1000 genomes]
rs7830192	0.86[EUR][1000 genomes]
rs7832928	0.90[EUR][1000 genomes]
rs7841822	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7844619	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7845239	0.81[EUR][1000 genomes]
rs7845412	0.81[EUR][1000 genomes]
rs7845494	0.81[EUR][1000 genomes]
rs7845613	0.81[EUR][1000 genomes]
rs7845757	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846200	0.83[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs7846334	0.81[EUR][1000 genomes]
rs9297598	0.90[EUR][1000 genomes]
rs9643134	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1348725	NOV	cis	parietal	SCAN
rs1348725	MAL2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120523800-120533000	Weak transcription	Aorta	Aorta
2	chr8:120526200-120533200	Enhancers	NHDF-Ad	bronchial
3	chr8:120527800-120532800	Weak transcription	Adipose Nuclei	Adipose
4	chr8:120530400-120531600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:120530400-120532800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120531200-120531800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120531200-120532600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:120531400-120532800	Enhancers	Osteobl	bone
9	chr8:120531400-120533000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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