Variant report

Variant	rs1285028
Chromosome Location	chr6:45121948-45121949
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:45121825-45122001	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45120420..45122464-chr6:45122631..45125594,2	K562	blood:
2	chr6:45119653..45122627-chr6:45134013..45136661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000219384	TF binding region

Extended variants
information (count: 220 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:210)

rs_ID	r²[population]
rs1023091	0.82[EUR][1000 genomes]
rs1028944	0.83[EUR][1000 genomes]
rs10807318	0.80[ASN][1000 genomes]
rs10948225	0.82[ASN][1000 genomes]
rs10948227	0.82[ASN][1000 genomes]
rs10948228	0.82[ASN][1000 genomes]
rs10948230	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12204678	0.84[ASN][1000 genomes]
rs12524270	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12525603	0.82[ASN][1000 genomes]
rs12526462	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12526484	0.82[ASN][1000 genomes]
rs12526649	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12526755	0.84[EUR][1000 genomes]
rs12526807	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12527586	0.82[ASN][1000 genomes]
rs12527668	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12527743	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12528232	0.82[EUR][1000 genomes]
rs12528762	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12529295	0.82[ASN][1000 genomes]
rs12529907	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12529990	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12530207	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12660412	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12661902	0.82[EUR][1000 genomes]
rs12662272	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662664	0.82[ASN][1000 genomes]
rs12662685	0.82[ASN][1000 genomes]
rs12663469	0.83[ASN][1000 genomes]
rs12663798	0.84[EUR][1000 genomes]
rs1284955	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1284961	0.81[ASN][1000 genomes]
rs1284962	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1284964	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1284965	0.81[ASN][1000 genomes]
rs1284966	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1284967	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1284972	0.83[ASN][1000 genomes]
rs1284973	0.85[ASN][1000 genomes]
rs1284975	0.85[ASN][1000 genomes]
rs1284979	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1284988	0.82[ASN][1000 genomes]
rs1284989	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1284992	0.84[ASN][1000 genomes]
rs1284993	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1284995	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1284999	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1285000	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285003	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1285004	0.85[ASN][1000 genomes]
rs1285005	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285006	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285007	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285008	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285009	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285010	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285011	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285019	0.81[ASN][1000 genomes]
rs1285020	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285022	0.86[ASN][1000 genomes]
rs1285023	0.86[ASN][1000 genomes]
rs1285025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1285026	0.86[ASN][1000 genomes]
rs1285027	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1285029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1285031	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1285033	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1290386	0.81[ASN][1000 genomes]
rs1300126	0.85[ASN][1000 genomes]
rs13198471	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13201942	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13205113	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13209827	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13211006	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1324530	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1324532	0.84[ASN][1000 genomes]
rs1324535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324537	0.85[ASN][1000 genomes]
rs1359336	0.83[ASN][1000 genomes]
rs1360195	0.84[EUR][1000 genomes]
rs1406848	0.83[ASN][1000 genomes]
rs16873257	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16873345	0.82[ASN][1000 genomes]
rs16873348	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16873364	0.84[ASN][1000 genomes]
rs16873366	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1748233	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1748236	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1748238	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1748240	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1797148	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797149	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797156	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797159	0.82[ASN][1000 genomes]
rs1852985	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1853652	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1886345	0.84[ASN][1000 genomes]
rs2024786	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2024787	0.82[ASN][1000 genomes]
rs2057552	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2057553	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2093901	0.81[ASN][1000 genomes]
rs2093903	0.81[ASN][1000 genomes]
rs2396381	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2396425	0.81[ASN][1000 genomes]
rs2396426	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2763134	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2815263	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28360524	0.82[ASN][1000 genomes]
rs34152708	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34167737	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34251367	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34286542	0.84[EUR][1000 genomes]
rs34677014	0.82[ASN][1000 genomes]
rs35103634	0.85[EUR][1000 genomes]
rs35134594	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35687006	0.84[EUR][1000 genomes]
rs35811020	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35908738	0.84[EUR][1000 genomes]
rs3799987	0.84[EUR][1000 genomes]
rs4236086	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4312985	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4339452	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4341001	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4401652	0.82[ASN][1000 genomes]
rs4441951	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4475320	0.84[EUR][1000 genomes]
rs4512220	0.82[EUR][1000 genomes]
rs4521586	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4521587	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4590263	0.82[ASN][1000 genomes]
rs4711809	0.82[EUR][1000 genomes]
rs4711813	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4711814	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4714829	0.84[EUR][1000 genomes]
rs4714834	0.82[EUR][1000 genomes]
rs4714838	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4714842	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4714846	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4714850	0.82[ASN][1000 genomes]
rs55959525	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56175185	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56243649	0.82[ASN][1000 genomes]
rs59945128	0.85[EUR][1000 genomes]
rs59983488	0.81[ASN][1000 genomes]
rs60346641	0.82[ASN][1000 genomes]
rs60826731	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6458419	0.85[ASN][1000 genomes]
rs6458420	0.86[ASN][1000 genomes]
rs6458425	0.81[ASN][1000 genomes]
rs6458427	0.81[ASN][1000 genomes]
rs6458428	0.81[ASN][1000 genomes]
rs6458429	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6458430	0.81[ASN][1000 genomes]
rs6458432	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6458433	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6458434	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6458435	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6458440	0.82[ASN][1000 genomes]
rs6899378	0.85[ASN][1000 genomes]
rs6901161	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6901786	0.81[ASN][1000 genomes]
rs6905396	0.81[ASN][1000 genomes]
rs6905959	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6917352	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6917594	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926638	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6932926	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6936475	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6938316	0.80[ASN][1000 genomes]
rs6938592	0.94[ASN][1000 genomes]
rs6940983	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6941169	0.83[ASN][1000 genomes]
rs73449282	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73735337	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73735338	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73735354	0.82[ASN][1000 genomes]
rs73735357	0.82[ASN][1000 genomes]
rs73735369	0.82[ASN][1000 genomes]
rs73735378	0.82[ASN][1000 genomes]
rs7738526	0.81[ASN][1000 genomes]
rs7739928	0.80[ASN][1000 genomes]
rs7740542	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7745506	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7750380	0.83[ASN][1000 genomes]
rs7760112	0.82[ASN][1000 genomes]
rs927658	0.81[ASN][1000 genomes]
rs9296452	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9349313	0.86[ASN][1000 genomes]
rs9349315	0.81[ASN][1000 genomes]
rs9357470	0.81[ASN][1000 genomes]
rs9369534	0.83[ASN][1000 genomes]
rs9369549	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9381364	0.83[ASN][1000 genomes]
rs9381365	0.84[ASN][1000 genomes]
rs9381366	0.86[ASN][1000 genomes]
rs9381373	0.81[ASN][1000 genomes]
rs9395065	0.84[ASN][1000 genomes]
rs9395066	0.84[ASN][1000 genomes]
rs9395081	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9463069	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9463070	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9472442	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472453	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs964452	0.80[ASN][1000 genomes]
rs967588	0.82[ASN][1000 genomes]
rs988147	0.81[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	chr6:45121200-45122200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:45121800-45122600	Genic enhancers	Dnd41	blood

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