Variant report

Variant	rs61958140
Chromosome Location	chr13:53182401-53182402
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 244 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:225)

rs_ID	r²[population]
rs11148261	1.00[ASN][1000 genomes]
rs11148262	1.00[ASN][1000 genomes]
rs1370082	1.00[ASN][1000 genomes]
rs1370083	1.00[ASN][1000 genomes]
rs1436724	1.00[ASN][1000 genomes]
rs1436725	0.87[ASN][1000 genomes]
rs1436728	1.00[ASN][1000 genomes]
rs1436729	1.00[ASN][1000 genomes]
rs186900	1.00[ASN][1000 genomes]
rs1925135	1.00[ASN][1000 genomes]
rs1978805	1.00[ASN][1000 genomes]
rs2033680	1.00[ASN][1000 genomes]
rs2033684	1.00[ASN][1000 genomes]
rs2033685	1.00[ASN][1000 genomes]
rs2099547	1.00[ASN][1000 genomes]
rs2118093	1.00[ASN][1000 genomes]
rs237106	1.00[ASN][1000 genomes]
rs2575958	0.87[ASN][1000 genomes]
rs2575975	1.00[ASN][1000 genomes]
rs2760755	1.00[ASN][1000 genomes]
rs2760774	0.87[ASN][1000 genomes]
rs2760780	1.00[ASN][1000 genomes]
rs342769	1.00[ASN][1000 genomes]
rs342772	1.00[ASN][1000 genomes]
rs342773	1.00[ASN][1000 genomes]
rs342774	1.00[ASN][1000 genomes]
rs342777	1.00[ASN][1000 genomes]
rs34385713	1.00[ASN][1000 genomes]
rs35799542	1.00[ASN][1000 genomes]
rs3931491	1.00[ASN][1000 genomes]
rs3989920	1.00[ASN][1000 genomes]
rs4261418	1.00[ASN][1000 genomes]
rs4261419	1.00[ASN][1000 genomes]
rs4278636	1.00[ASN][1000 genomes]
rs4539485	1.00[ASN][1000 genomes]
rs4542538	1.00[ASN][1000 genomes]
rs4586310	1.00[ASN][1000 genomes]
rs4884223	1.00[ASN][1000 genomes]
rs4884240	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885767	1.00[ASN][1000 genomes]
rs4885804	1.00[ASN][1000 genomes]
rs4885827	1.00[ASN][1000 genomes]
rs4885887	1.00[ASN][1000 genomes]
rs4885910	1.00[ASN][1000 genomes]
rs58007072	1.00[ASN][1000 genomes]
rs58093707	1.00[ASN][1000 genomes]
rs58762582	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596546	1.00[ASN][1000 genomes]
rs60117820	1.00[ASN][1000 genomes]
rs601596	1.00[ASN][1000 genomes]
rs602743	1.00[ASN][1000 genomes]
rs60277273	1.00[ASN][1000 genomes]
rs602954	1.00[ASN][1000 genomes]
rs603070	1.00[ASN][1000 genomes]
rs60623593	1.00[ASN][1000 genomes]
rs61311520	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615509	1.00[ASN][1000 genomes]
rs617660	1.00[ASN][1000 genomes]
rs61958087	1.00[ASN][1000 genomes]
rs61958115	1.00[ASN][1000 genomes]
rs61958120	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958121	1.00[ASN][1000 genomes]
rs61958122	1.00[ASN][1000 genomes]
rs61958123	1.00[ASN][1000 genomes]
rs61958126	1.00[ASN][1000 genomes]
rs61958127	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958131	1.00[ASN][1000 genomes]
rs61958132	1.00[ASN][1000 genomes]
rs61958134	1.00[ASN][1000 genomes]
rs61958135	1.00[ASN][1000 genomes]
rs61958136	1.00[ASN][1000 genomes]
rs61958137	1.00[ASN][1000 genomes]
rs61958138	0.87[ASN][1000 genomes]
rs61958139	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958141	1.00[ASN][1000 genomes]
rs61958142	1.00[ASN][1000 genomes]
rs61959576	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959578	1.00[ASN][1000 genomes]
rs61959579	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959591	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959592	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959594	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959595	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959616	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959617	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959618	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959619	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959620	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959653	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959654	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959656	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959659	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61961160	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630180	1.00[ASN][1000 genomes]
rs630232	1.00[ASN][1000 genomes]
rs630892	1.00[ASN][1000 genomes]
rs632146	1.00[ASN][1000 genomes]
rs632528	1.00[ASN][1000 genomes]
rs636035	1.00[ASN][1000 genomes]
rs636509	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636511	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646144	1.00[ASN][1000 genomes]
rs646498	1.00[ASN][1000 genomes]
rs646911	1.00[ASN][1000 genomes]
rs647377	1.00[ASN][1000 genomes]
rs6561672	1.00[ASN][1000 genomes]
rs6561673	1.00[ASN][1000 genomes]
rs6561674	1.00[ASN][1000 genomes]
rs6561676	1.00[ASN][1000 genomes]
rs6561677	1.00[ASN][1000 genomes]
rs6561678	1.00[ASN][1000 genomes]
rs6561679	1.00[ASN][1000 genomes]
rs6561684	1.00[ASN][1000 genomes]
rs6561685	1.00[ASN][1000 genomes]
rs6561686	1.00[ASN][1000 genomes]
rs659247	1.00[ASN][1000 genomes]
rs659848	0.86[ASN][1000 genomes]
rs662582	0.87[ASN][1000 genomes]
rs664827	0.86[ASN][1000 genomes]
rs670291	1.00[ASN][1000 genomes]
rs676306	1.00[ASN][1000 genomes]
rs681165	1.00[ASN][1000 genomes]
rs682343	1.00[ASN][1000 genomes]
rs693991	1.00[ASN][1000 genomes]
rs694275	1.00[ASN][1000 genomes]
rs694846	1.00[ASN][1000 genomes]
rs695165	1.00[ASN][1000 genomes]
rs7319451	1.00[ASN][1000 genomes]
rs7325840	1.00[ASN][1000 genomes]
rs7330193	1.00[ASN][1000 genomes]
rs7330361	1.00[ASN][1000 genomes]
rs7330755	1.00[ASN][1000 genomes]
rs7335270	1.00[ASN][1000 genomes]
rs7982285	1.00[ASN][1000 genomes]
rs7986540	1.00[ASN][1000 genomes]
rs7986877	1.00[ASN][1000 genomes]
rs7987162	1.00[ASN][1000 genomes]
rs7987405	1.00[ASN][1000 genomes]
rs7992165	1.00[ASN][1000 genomes]
rs7994651	1.00[ASN][1000 genomes]
rs7995188	1.00[ASN][1000 genomes]
rs7996692	1.00[ASN][1000 genomes]
rs7999466	1.00[ASN][1000 genomes]
rs8000715	1.00[ASN][1000 genomes]
rs893070	1.00[ASN][1000 genomes]
rs9316581	1.00[ASN][1000 genomes]
rs9316582	1.00[ASN][1000 genomes]
rs9316583	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526947	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526948	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526949	1.00[ASN][1000 genomes]
rs9526957	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526958	1.00[ASN][1000 genomes]
rs9526960	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526964	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526966	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526970	1.00[ASN][1000 genomes]
rs9526972	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526973	1.00[ASN][1000 genomes]
rs9526976	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526978	1.00[ASN][1000 genomes]
rs9526986	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526987	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526988	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526991	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526993	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526994	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526997	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536170	0.89[EUR][1000 genomes]
rs9536172	0.86[ASN][1000 genomes]
rs9536173	0.86[ASN][1000 genomes]
rs9536175	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536176	1.00[ASN][1000 genomes]
rs9536177	1.00[ASN][1000 genomes]
rs9536179	1.00[ASN][1000 genomes]
rs9536180	1.00[ASN][1000 genomes]
rs9536181	1.00[ASN][1000 genomes]
rs9536182	1.00[ASN][1000 genomes]
rs9536183	1.00[ASN][1000 genomes]
rs9536184	1.00[ASN][1000 genomes]
rs9536187	1.00[ASN][1000 genomes]
rs9536188	1.00[ASN][1000 genomes]
rs9536192	1.00[ASN][1000 genomes]
rs9536193	1.00[ASN][1000 genomes]
rs9536194	1.00[ASN][1000 genomes]
rs9536195	1.00[ASN][1000 genomes]
rs9536196	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536205	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536206	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536209	1.00[ASN][1000 genomes]
rs9536215	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536216	1.00[ASN][1000 genomes]
rs9536218	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536221	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536222	1.00[ASN][1000 genomes]
rs9536228	1.00[ASN][1000 genomes]
rs9536229	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536232	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536233	0.86[EUR][1000 genomes]
rs9536235	1.00[ASN][1000 genomes]
rs9536237	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536238	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536240	1.00[ASN][1000 genomes]
rs9536241	1.00[ASN][1000 genomes]
rs9536243	1.00[ASN][1000 genomes]
rs9536244	1.00[ASN][1000 genomes]
rs9536246	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536248	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536249	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536250	1.00[ASN][1000 genomes]
rs9536251	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536253	1.00[ASN][1000 genomes]
rs9536255	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536256	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536257	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536260	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536261	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536264	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568747	1.00[ASN][1000 genomes]
rs9568748	1.00[ASN][1000 genomes]
rs9568752	1.00[ASN][1000 genomes]
rs9596671	1.00[ASN][1000 genomes]
rs964946	1.00[ASN][1000 genomes]
rs971513	1.00[ASN][1000 genomes]
rs973198	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised 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
16	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	nsv976119	chr13:53176029-53218496	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53175000-53191000	Weak transcription	Fetal Stomach	stomach
2	chr13:53175200-53183200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:53175200-53183200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr13:53180000-53182600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:53181200-53190000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr13:53181800-53183000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:53182200-53183200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:53182200-53183800	Enhancers	HUVEC	blood vessel
9	chr13:53182400-53182800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:53182400-53183200	Enhancers	HepG2	liver
11	chr13:53182400-53183600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:53182400-53186000	Enhancers	Fetal Heart	heart

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