Variant report

Variant	rs12527743
Chromosome Location	chr6:45206819-45206820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1080415	0.86[ASN][1000 genomes]
rs10807318	0.82[ASN][1000 genomes]
rs10807319	0.86[ASN][1000 genomes]
rs10807320	0.84[ASN][1000 genomes]
rs10948222	0.81[ASN][1000 genomes]
rs10948225	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10948227	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10948228	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10948230	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10948231	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12205274	0.81[ASN][1000 genomes]
rs12524270	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12525603	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12525950	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12526462	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12526484	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12526649	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12526807	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12527586	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12527668	0.81[AMR][1000 genomes]
rs12528762	0.82[AMR][1000 genomes]
rs12529295	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12529907	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12529946	0.81[ASN][1000 genomes]
rs12529990	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12530207	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12660412	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12662272	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12662664	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12662685	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12663469	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1284955	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284961	0.82[ASN][1000 genomes]
rs1284962	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284964	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284965	0.82[ASN][1000 genomes]
rs1284966	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1284967	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284979	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1284989	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1284993	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1284995	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1284999	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1285000	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1285003	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1285005	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285006	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285007	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1285008	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285009	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285010	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285011	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285019	0.82[ASN][1000 genomes]
rs1285020	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1285021	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285025	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1285027	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1285028	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285029	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285030	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285031	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1285033	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1290386	0.82[ASN][1000 genomes]
rs1304168	0.84[ASN][1000 genomes]
rs13198471	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13201942	0.82[AMR][1000 genomes]
rs13205113	0.82[AMR][1000 genomes]
rs13209827	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13211006	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1324530	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1324535	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1324540	0.85[ASN][1000 genomes]
rs1406848	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1581777	0.86[ASN][1000 genomes]
rs16873257	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16873345	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16873348	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873364	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16873366	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16873373	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873379	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1748233	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1748236	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1748238	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1748240	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1797148	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1797149	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1797156	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1797159	0.83[ASN][1000 genomes]
rs1852985	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1853652	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2024786	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2024787	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2057552	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057553	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064629	1.00[AFR][1000 genomes]
rs2093901	0.82[ASN][1000 genomes]
rs2093903	0.82[ASN][1000 genomes]
rs2295295	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295296	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2396381	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2396425	0.82[ASN][1000 genomes]
rs2396426	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2763134	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815263	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28360524	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34152708	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34167737	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34251367	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34677014	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35134594	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35565233	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35811020	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3763190	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4236086	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4312985	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4339452	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4341001	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4352679	0.84[ASN][1000 genomes]
rs4401652	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4441951	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4521586	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4521587	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4590263	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4711813	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4711814	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4714838	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4714842	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714845	0.84[ASN][1000 genomes]
rs4714846	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4714847	0.86[ASN][1000 genomes]
rs4714848	0.86[ASN][1000 genomes]
rs4714850	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4714853	0.87[ASN][1000 genomes]
rs55959525	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56175185	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56243649	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58100797	0.82[ASN][1000 genomes]
rs59983488	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60346641	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60826731	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6458425	0.82[ASN][1000 genomes]
rs6458427	0.82[ASN][1000 genomes]
rs6458428	0.82[ASN][1000 genomes]
rs6458429	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6458430	0.82[ASN][1000 genomes]
rs6458432	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458434	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458435	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458440	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6901161	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901786	0.82[ASN][1000 genomes]
rs6905396	0.82[ASN][1000 genomes]
rs6905959	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6917352	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6917594	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6926638	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6932926	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6936475	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6937317	0.86[ASN][1000 genomes]
rs6938316	0.82[ASN][1000 genomes]
rs6938592	0.86[ASN][1000 genomes]
rs6940983	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6941169	0.85[ASN][1000 genomes]
rs717987	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73449282	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73735337	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73735338	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73735354	0.87[ASN][1000 genomes]
rs73735357	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73735369	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73735378	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7451423	0.81[ASN][1000 genomes]
rs7738526	0.82[ASN][1000 genomes]
rs7740542	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7745506	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7760112	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs927658	0.82[ASN][1000 genomes]
rs9296452	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9296453	0.86[ASN][1000 genomes]
rs9296455	0.84[ASN][1000 genomes]
rs9349315	0.82[ASN][1000 genomes]
rs9357478	0.84[ASN][1000 genomes]
rs9357480	0.86[ASN][1000 genomes]
rs9369549	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9381373	0.82[ASN][1000 genomes]
rs9395081	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395086	0.86[ASN][1000 genomes]
rs9395088	0.84[ASN][1000 genomes]
rs9463069	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9463070	0.83[ASN][1000 genomes]
rs9463076	0.81[ASN][1000 genomes]
rs9463081	0.86[ASN][1000 genomes]
rs9472442	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9472451	0.86[ASN][1000 genomes]
rs9472453	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs967588	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs988147	0.82[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	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	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
5	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
6	nsv1028068	chr6:45169010-45246577	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2763550	chr6:45186825-45275593	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45196800-45207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:45201200-45210000	Weak transcription	Ovary	ovary
3	chr6:45201400-45207200	Weak transcription	Aorta	Aorta
4	chr6:45201400-45207800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:45201400-45211800	Weak transcription	Fetal Heart	heart
6	chr6:45204000-45207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:45204400-45207800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:45204800-45207200	Weak transcription	Dnd41	blood
9	chr6:45206200-45210600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:45206800-45209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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