Variant report

Variant	rs12202400
Chromosome Location	chr6:48583280-48583281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10456594	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10456595	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10498776	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10807394	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10948420	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10948421	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10948422	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10948423	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10948427	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11754486	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11759229	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11964499	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11964998	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12191801	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12194657	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12199129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202739	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12207041	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12209967	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1343441	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1427155	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1443637	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1816832	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2433661	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2495891	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4122442	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6458618	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68064733	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6910476	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6923525	0.95[ASN][1000 genomes]
rs6932021	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72864005	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864011	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72864060	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72864061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72865750	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9349447	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349448	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9349449	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357576	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357577	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357578	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357579	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357580	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9367313	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9367314	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9367315	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9367316	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9367317	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9369788	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9369790	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9369791	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9369792	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9369797	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9369800	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381659	0.95[ASN][1000 genomes]
rs9381660	0.95[ASN][1000 genomes]
rs9381662	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381663	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381664	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381665	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381670	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381671	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381672	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381678	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9381679	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9381682	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9381683	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9395367	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9395368	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9395369	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9395370	0.81[EUR][1000 genomes]
rs9395371	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395382	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9395387	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9395388	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9395393	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv603035	chr6:47902243-48700995	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885877	chr6:48117685-48626930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv462942	chr6:48480264-48598199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv885878	chr6:48481466-48623408	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv830658	chr6:48497904-48632523	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2752125	chr6:48575963-48718589	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48582800-48583400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:48583000-48583800	Enhancers	Osteobl	bone

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