Variant report

Variant	rs11805597
Chromosome Location	chr1:186499344-186499345
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10489396	0.84[EUR][1000 genomes]
rs10489397	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1108635	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11582183	0.80[ASN][1000 genomes]
rs11799322	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11800288	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11800338	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11800651	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11801527	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11801617	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11802705	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11803944	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11803969	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11804161	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11804785	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11806017	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11806329	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11806663	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11806701	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11807318	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11807443	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11807927	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11808165	0.84[EUR][1000 genomes]
rs11808643	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11808900	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11809088	0.84[EUR][1000 genomes]
rs11810534	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11811259	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11811260	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11811335	0.84[EUR][1000 genomes]
rs11812050	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12723621	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12726528	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12726764	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12731288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12731687	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12739006	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12739643	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12747113	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12747991	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12750371	0.80[ASN][1000 genomes]
rs12750686	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12752376	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12753223	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12754662	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825361	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16825403	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16825434	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16825473	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16825519	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16825600	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1883650	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2008704	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2024761	0.80[ASN][1000 genomes]
rs2206974	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2223783	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2223784	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2383509	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2383512	0.82[EUR][1000 genomes]
rs2383513	0.84[EUR][1000 genomes]
rs2383514	0.84[EUR][1000 genomes]
rs2891249	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs33963275	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33996079	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34200789	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34228564	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34249733	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34272627	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34310508	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34459464	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513409	0.90[EUR][1000 genomes]
rs34578387	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34778311	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34781399	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34783173	0.83[EUR][1000 genomes]
rs34858233	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35205448	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35206897	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35240980	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35326401	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35461575	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35481005	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35636342	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35868587	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35945739	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36016361	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36030781	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36053737	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3901243	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3933210	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4140432	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4140434	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58626385	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6666813	0.80[ASN][1000 genomes]
rs6674145	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6678198	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6680055	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6682896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6683271	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71634161	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71634164	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71634167	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71634173	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71634175	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71634176	0.81[AMR][1000 genomes];0.84[EUR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186494000-186501000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:186494600-186499400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:186499000-186502200	Enhancers	Osteobl	bone
4	chr1:186499200-186499400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:186499200-186500600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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