Variant report

Variant	rs4883780
Chromosome Location	chr13:67110350-67110351
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	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10507739	0.96[ASN][1000 genomes]
rs12859352	0.95[ASN][1000 genomes]
rs12867615	0.90[ASN][1000 genomes]
rs12868544	0.82[ASN][1000 genomes]
rs12868791	0.98[ASN][1000 genomes]
rs12868964	0.98[ASN][1000 genomes]
rs12869171	0.98[ASN][1000 genomes]
rs12870336	0.92[ASN][1000 genomes]
rs12877241	0.92[ASN][1000 genomes]
rs1470370	0.81[ASN][1000 genomes]
rs17081420	0.90[ASN][1000 genomes]
rs17081458	0.98[ASN][1000 genomes]
rs17081462	0.98[ASN][1000 genomes]
rs17081473	0.98[ASN][1000 genomes]
rs17081495	0.92[ASN][1000 genomes]
rs1932881	0.98[ASN][1000 genomes]
rs1932883	0.96[ASN][1000 genomes]
rs1932886	0.98[ASN][1000 genomes]
rs2184841	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2324915	0.98[ASN][1000 genomes]
rs34038924	0.82[ASN][1000 genomes]
rs34557527	0.82[ASN][1000 genomes]
rs34979741	0.98[ASN][1000 genomes]
rs35049183	0.82[ASN][1000 genomes]
rs35898401	0.82[ASN][1000 genomes]
rs36068454	0.89[ASN][1000 genomes]
rs4144493	0.92[ASN][1000 genomes]
rs4242928	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4379952	0.90[ASN][1000 genomes]
rs4516088	0.98[ASN][1000 genomes]
rs4883779	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4884677	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4884678	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55774405	0.97[ASN][1000 genomes]
rs56729791	0.97[ASN][1000 genomes]
rs61955971	0.98[ASN][1000 genomes]
rs67609817	0.98[ASN][1000 genomes]
rs7332539	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7335074	0.83[ASN][1000 genomes]
rs7981496	0.92[ASN][1000 genomes]
rs7986003	0.82[ASN][1000 genomes]
rs7998584	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9317595	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9529073	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9529076	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9529077	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9529079	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9529081	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9529083	0.92[ASN][1000 genomes]
rs9529084	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9529086	0.98[ASN][1000 genomes]
rs9529087	0.97[ASN][1000 genomes]
rs9529092	0.97[ASN][1000 genomes]
rs9529096	0.82[ASN][1000 genomes]
rs9540770	0.80[ASN][1000 genomes]
rs9540776	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9540785	0.90[ASN][1000 genomes]
rs9540786	0.90[ASN][1000 genomes]
rs9540787	0.92[ASN][1000 genomes]
rs9540788	0.92[ASN][1000 genomes]
rs9540789	0.92[ASN][1000 genomes]
rs9540790	0.92[ASN][1000 genomes]
rs9540791	0.92[ASN][1000 genomes]
rs9540792	0.96[ASN][1000 genomes]
rs9540793	0.96[ASN][1000 genomes]
rs9540794	0.98[ASN][1000 genomes]
rs9540795	0.98[ASN][1000 genomes]
rs9540796	0.98[ASN][1000 genomes]
rs9540799	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9540800	0.97[ASN][1000 genomes]
rs9540801	0.97[ASN][1000 genomes]
rs9540802	0.97[ASN][1000 genomes]
rs9540803	0.97[ASN][1000 genomes]
rs9540810	0.97[ASN][1000 genomes]
rs9540812	0.97[ASN][1000 genomes]
rs9540813	0.97[ASN][1000 genomes]
rs9540817	0.95[ASN][1000 genomes]
rs9540821	0.82[ASN][1000 genomes]
rs9540824	0.83[ASN][1000 genomes]
rs9564317	0.82[ASN][1000 genomes]
rs9564319	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9564320	1.00[ASN][1000 genomes]
rs9564321	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9564322	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9571587	0.82[ASN][1000 genomes]
rs9571595	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9571596	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530416	chr13:66198235-67126195	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1053763	chr13:66210166-67184972	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541811	chr13:66210166-67184972	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv932195	chr13:66215786-67215733	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv530723	chr13:66219650-67200316	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1052017	chr13:66232288-67213033	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv534503	chr13:66287963-67126195	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv915828	chr13:66544825-67212201	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1051051	chr13:66948744-67126296	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2757538	chr13:67005812-67119200	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2759943	chr13:67005812-67119200	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv2422196	chr13:67041890-67295480	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv832639	chr13:67049800-67223701	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv900391	chr13:67080274-67133203	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv900392	chr13:67080274-67166073	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv900393	chr13:67080274-67180045	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv900394	chr13:67090292-67180045	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv900395	chr13:67091922-67180045	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1048897	chr13:67093805-67175675	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1044410	chr13:67094314-67148488	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1042195	chr13:67094356-67143770	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv541812	chr13:67094356-67143770	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1044881	chr13:67095885-67126696	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv900396	chr13:67095885-67166073	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv900397	chr13:67095885-67180045	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv471142	chr13:67098374-67169478	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv455923	chr13:67098375-67150760	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv562098	chr13:67098375-67150760	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv455924	chr13:67098375-67169478	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv455925	chr13:67098375-67169478	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv562099	chr13:67098375-67169478	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv455926	chr13:67098375-67200654	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv562100	chr13:67098375-67200654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv455927	chr13:67098855-67169478	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv562101	chr13:67098855-67169478	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1048293	chr13:67099206-67166073	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv2761797	chr13:67099218-67166073	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv1047112	chr13:67103902-67166419	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv541813	chr13:67103902-67166419	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv1037476	chr13:67104372-67146539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv1037855	chr13:67104372-67168370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv541814	chr13:67104372-67168370	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv1052817	chr13:67104372-67175675	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv541815	chr13:67104372-67175675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67104400-67114600	Weak transcription	Fetal Kidney	kidney
2	chr13:67105200-67111000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:67107200-67110800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:67108800-67111200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:67109000-67111000	Weak transcription	Osteobl	bone
6	chr13:67109200-67111000	Weak transcription	Muscle Satellite Cultured Cells	--

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