Variant report

Variant	rs1285000
Chromosome Location	chr6:45096039-45096040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45093713..45096382-chr6:45127644..45129447,2	K562	blood:
2	chr6:45092014..45095175-chr6:45095501..45098870,4	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1023091	0.81[EUR][1000 genomes]
rs1028944	0.82[EUR][1000 genomes]
rs12526649	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12526755	0.83[EUR][1000 genomes]
rs12526807	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12527668	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12527743	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12528232	0.81[EUR][1000 genomes]
rs12528762	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12529907	0.82[AMR][1000 genomes]
rs12529990	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12530207	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12660412	0.82[AMR][1000 genomes]
rs12661902	0.81[EUR][1000 genomes]
rs12662272	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12663798	0.83[EUR][1000 genomes]
rs1284955	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1284962	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1284964	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1284966	0.81[ASN][1000 genomes]
rs1284967	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1284979	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1284989	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1284993	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1284995	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1284999	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1285003	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1285005	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285006	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285007	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1285008	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285009	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285010	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285011	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285020	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1285021	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285025	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1285027	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1285028	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285029	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285030	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1285031	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1285033	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13198471	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13201942	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13205113	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13209827	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13211006	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1324530	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1324535	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1329715	0.84[EUR][1000 genomes]
rs1360195	0.83[EUR][1000 genomes]
rs16873257	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1748233	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748236	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748238	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1748240	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1797148	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1797149	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1797156	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1853652	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2057552	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2057553	0.85[ASN][1000 genomes]
rs2396381	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2396426	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2763134	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2815263	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34152708	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34167737	0.83[ASN][1000 genomes]
rs34251367	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34286542	0.83[EUR][1000 genomes]
rs35103634	0.84[EUR][1000 genomes]
rs35134594	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35687006	0.83[EUR][1000 genomes]
rs35704584	0.82[EUR][1000 genomes]
rs35811020	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35908738	0.83[EUR][1000 genomes]
rs3799987	0.83[EUR][1000 genomes]
rs4475320	0.83[EUR][1000 genomes]
rs4512220	0.81[EUR][1000 genomes]
rs4521586	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4521587	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4711809	0.81[EUR][1000 genomes]
rs4714829	0.83[EUR][1000 genomes]
rs4714834	0.81[EUR][1000 genomes]
rs4714838	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4714842	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4714846	0.83[ASN][1000 genomes]
rs56175185	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59945128	0.84[EUR][1000 genomes]
rs6458432	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6458433	0.84[ASN][1000 genomes]
rs6458434	0.83[ASN][1000 genomes]
rs6458435	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6901161	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6905959	0.82[AMR][1000 genomes]
rs6917352	0.86[ASN][1000 genomes]
rs6917594	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6919161	0.81[EUR][1000 genomes]
rs6936475	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6938592	0.88[ASN][1000 genomes]
rs6940983	0.82[AMR][1000 genomes]
rs73449282	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73735337	0.82[ASN][1000 genomes]
rs73735338	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7740542	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7745506	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9296452	0.83[ASN][1000 genomes]
rs9369549	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9395081	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9463069	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9463070	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9472442	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9472453	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv885865	chr6:45012223-45102025	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	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
11	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45089000-45099400	Weak transcription	Fetal Heart	heart
2	chr6:45092800-45099800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:45094600-45099600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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