Variant report

Variant	rs58505888
Chromosome Location	chr13:53167963-53167964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs186900	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1925135	0.85[AMR][1000 genomes]
rs237106	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2575957	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2760774	0.81[EUR][1000 genomes]
rs2760780	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs342769	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs342772	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs342773	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs342774	0.85[AMR][1000 genomes]
rs342777	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58007072	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58093707	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs596546	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60117820	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs601596	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs602743	0.85[AMR][1000 genomes]
rs602954	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs603070	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60623593	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs615509	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs617660	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958087	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958115	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958116	0.96[AFR][1000 genomes]
rs61958121	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958122	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61958123	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958126	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958127	0.85[AMR][1000 genomes]
rs61958131	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958132	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958134	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958135	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61958136	0.85[AMR][1000 genomes]
rs61958137	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61959578	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs630180	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs630232	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs636035	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs636509	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs636511	0.85[AMR][1000 genomes]
rs646144	0.85[AMR][1000 genomes]
rs646498	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs646911	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs647377	0.85[AMR][1000 genomes]
rs659247	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs659848	0.86[AFR][1000 genomes]
rs662582	0.83[AFR][1000 genomes]
rs664827	0.84[AFR][1000 genomes]
rs670291	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs681165	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs682343	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs693991	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs694275	0.85[AMR][1000 genomes]
rs694846	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs695165	0.85[AMR][1000 genomes]
rs7319451	0.85[AMR][1000 genomes]
rs7982285	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7988145	0.85[AMR][1000 genomes]
rs9526947	0.85[AMR][1000 genomes]
rs9526949	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9526958	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536168	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536169	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536171	0.90[AFR][1000 genomes]
rs9536177	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536179	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536180	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536181	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536182	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536183	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536184	0.85[AMR][1000 genomes]
rs9536186	0.81[AFR][1000 genomes]
rs9536187	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536188	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536189	0.93[AMR][1000 genomes]
rs9536192	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536193	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536194	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536195	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536209	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9536215	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv900086	chr13:53030565-53208030	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1038132	chr13:53057359-53190994	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2760295	chr13:53071152-53178504	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv900087	chr13:53119704-53208030	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv976118	chr13:53120951-53171671	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv819201	chr13:53137490-53240330	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	esv13738	chr13:53159859-53177755	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53161000-53173000	Weak transcription	Fetal Heart	heart
2	chr13:53167600-53171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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