Variant report

Variant	rs1285020
Chromosome Location	chr6:45110213-45110214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 209 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:199)

rs_ID	r²[population]
rs1023091	0.82[EUR][1000 genomes]
rs1028944	0.83[EUR][1000 genomes]
rs10948225	0.81[ASN][1000 genomes]
rs10948227	0.81[ASN][1000 genomes]
rs10948228	0.81[ASN][1000 genomes]
rs10948230	0.82[ASN][1000 genomes]
rs12204678	0.85[ASN][1000 genomes]
rs12524270	0.81[ASN][1000 genomes]
rs12525603	0.81[ASN][1000 genomes]
rs12526462	0.82[ASN][1000 genomes]
rs12526484	0.81[ASN][1000 genomes]
rs12526649	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12526755	0.84[EUR][1000 genomes]
rs12526807	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12527586	0.81[ASN][1000 genomes]
rs12527668	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12527743	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12528232	0.82[EUR][1000 genomes]
rs12528762	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12529295	0.81[ASN][1000 genomes]
rs12529907	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12529990	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12530207	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12660412	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12661902	0.82[EUR][1000 genomes]
rs12662272	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12662664	0.81[ASN][1000 genomes]
rs12662685	0.81[ASN][1000 genomes]
rs12663798	0.84[EUR][1000 genomes]
rs1284955	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1284961	0.80[ASN][1000 genomes]
rs1284962	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1284964	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1284965	0.80[ASN][1000 genomes]
rs1284966	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1284967	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1284972	0.83[ASN][1000 genomes]
rs1284973	0.84[ASN][1000 genomes]
rs1284975	0.84[ASN][1000 genomes]
rs1284979	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1284988	0.81[ASN][1000 genomes]
rs1284989	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1284992	0.83[ASN][1000 genomes]
rs1284993	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284995	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284999	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1285000	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1285003	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1285004	0.84[ASN][1000 genomes]
rs1285005	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285006	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285007	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1285008	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285009	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285010	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285011	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285019	0.80[ASN][1000 genomes]
rs1285021	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285022	0.85[ASN][1000 genomes]
rs1285023	0.85[ASN][1000 genomes]
rs1285025	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1285026	0.86[ASN][1000 genomes]
rs1285027	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1285028	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285029	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285030	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285031	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1285033	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1290386	0.80[ASN][1000 genomes]
rs1300126	0.84[ASN][1000 genomes]
rs13198471	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13201942	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13205113	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13209827	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13211006	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1324530	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1324532	0.83[ASN][1000 genomes]
rs1324535	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1324537	0.84[ASN][1000 genomes]
rs1329715	0.85[EUR][1000 genomes]
rs1359336	0.82[ASN][1000 genomes]
rs1360195	0.84[EUR][1000 genomes]
rs16873257	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16873345	0.81[ASN][1000 genomes]
rs16873348	0.82[ASN][1000 genomes]
rs1748233	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1748236	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1748238	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1748240	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1797148	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797149	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797156	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797159	0.83[ASN][1000 genomes]
rs1853652	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1886345	0.83[ASN][1000 genomes]
rs2024786	0.82[ASN][1000 genomes]
rs2024787	0.81[ASN][1000 genomes]
rs2057552	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2057553	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2093901	0.80[ASN][1000 genomes]
rs2093903	0.80[ASN][1000 genomes]
rs2396381	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2396425	0.80[ASN][1000 genomes]
rs2396426	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2763134	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2815263	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28360524	0.81[ASN][1000 genomes]
rs34152708	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34167737	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34251367	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34286542	0.84[EUR][1000 genomes]
rs34677014	0.81[ASN][1000 genomes]
rs35103634	0.85[EUR][1000 genomes]
rs35134594	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35687006	0.84[EUR][1000 genomes]
rs35704584	0.83[EUR][1000 genomes]
rs35811020	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35908738	0.84[EUR][1000 genomes]
rs3799987	0.84[EUR][1000 genomes]
rs4236086	0.81[ASN][1000 genomes]
rs4312985	0.81[ASN][1000 genomes]
rs4339452	0.85[ASN][1000 genomes]
rs4341001	0.81[ASN][1000 genomes]
rs4401652	0.81[ASN][1000 genomes]
rs4441951	0.82[ASN][1000 genomes]
rs4475320	0.84[EUR][1000 genomes]
rs4512220	0.82[EUR][1000 genomes]
rs4521586	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4521587	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4590263	0.81[ASN][1000 genomes]
rs4711809	0.82[EUR][1000 genomes]
rs4711813	0.81[ASN][1000 genomes]
rs4714829	0.84[EUR][1000 genomes]
rs4714834	0.82[EUR][1000 genomes]
rs4714838	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4714842	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4714846	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4714850	0.81[ASN][1000 genomes]
rs55959525	0.85[ASN][1000 genomes]
rs56175185	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56243649	0.81[ASN][1000 genomes]
rs59945128	0.85[EUR][1000 genomes]
rs59983488	0.81[ASN][1000 genomes]
rs60346641	0.81[ASN][1000 genomes]
rs60826731	0.81[ASN][1000 genomes]
rs6458419	0.84[ASN][1000 genomes]
rs6458420	0.85[ASN][1000 genomes]
rs6458425	0.80[ASN][1000 genomes]
rs6458427	0.80[ASN][1000 genomes]
rs6458428	0.80[ASN][1000 genomes]
rs6458429	0.80[ASN][1000 genomes]
rs6458430	0.80[ASN][1000 genomes]
rs6458432	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6458433	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6458434	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6458435	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6899378	0.84[ASN][1000 genomes]
rs6901161	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6901786	0.80[ASN][1000 genomes]
rs6905396	0.80[ASN][1000 genomes]
rs6905959	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6917352	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6917594	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6936475	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6938592	0.93[ASN][1000 genomes]
rs6940983	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6941169	0.82[ASN][1000 genomes]
rs73449282	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73735337	0.88[ASN][1000 genomes]
rs73735338	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73735354	0.81[ASN][1000 genomes]
rs73735357	0.81[ASN][1000 genomes]
rs73735369	0.81[ASN][1000 genomes]
rs73735378	0.81[ASN][1000 genomes]
rs7738526	0.80[ASN][1000 genomes]
rs7740542	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7745506	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7750380	0.82[ASN][1000 genomes]
rs7760112	0.81[ASN][1000 genomes]
rs927658	0.80[ASN][1000 genomes]
rs9296452	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9349313	0.85[ASN][1000 genomes]
rs9349315	0.80[ASN][1000 genomes]
rs9357470	0.80[ASN][1000 genomes]
rs9369534	0.82[ASN][1000 genomes]
rs9369549	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9381364	0.82[ASN][1000 genomes]
rs9381365	0.83[ASN][1000 genomes]
rs9381366	0.85[ASN][1000 genomes]
rs9381373	0.80[ASN][1000 genomes]
rs9395065	0.83[ASN][1000 genomes]
rs9395066	0.83[ASN][1000 genomes]
rs9395081	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9463069	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9463070	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9472442	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9472453	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs967588	0.81[ASN][1000 genomes]
rs988147	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1026728	chr6:45001948-45126730	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv538213	chr6:45001948-45126730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1032906	chr6:45069368-45212863	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45103200-45116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:45103400-45115400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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