Variant report

Variant	rs12868544
Chromosome Location	chr13:67138545-67138546
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10507739	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12859352	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12862479	0.86[EUR][1000 genomes]
rs12868791	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12868964	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12869171	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12869568	0.86[EUR][1000 genomes]
rs12870336	0.84[EUR][1000 genomes]
rs12877241	0.83[EUR][1000 genomes]
rs17081420	0.84[EUR][1000 genomes]
rs17081458	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17081462	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17081473	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17081495	0.85[EUR][1000 genomes]
rs1932881	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1932882	0.86[EUR][1000 genomes]
rs1932883	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1932886	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2184841	0.82[ASN][1000 genomes]
rs2324915	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34038924	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34394369	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34557527	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34979741	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35049183	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35628504	0.86[EUR][1000 genomes]
rs35898401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36068454	0.85[EUR][1000 genomes]
rs4144493	0.84[EUR][1000 genomes]
rs4144494	0.84[EUR][1000 genomes]
rs4516088	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4883779	0.82[ASN][1000 genomes]
rs4883780	0.82[ASN][1000 genomes]
rs4883781	0.84[ASN][1000 genomes]
rs4884678	0.82[ASN][1000 genomes]
rs55774405	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56083836	0.85[EUR][1000 genomes]
rs56729791	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61955971	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67609817	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7332539	0.98[ASN][1000 genomes]
rs7335074	0.96[ASN][1000 genomes]
rs7981496	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7984900	0.85[ASN][1000 genomes]
rs7986003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998584	0.85[ASN][1000 genomes]
rs9317595	0.83[ASN][1000 genomes]
rs9529083	0.84[EUR][1000 genomes]
rs9529086	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9529087	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9529092	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9529093	0.87[EUR][1000 genomes]
rs9529096	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9540786	0.83[EUR][1000 genomes]
rs9540787	0.84[EUR][1000 genomes]
rs9540788	0.84[EUR][1000 genomes]
rs9540789	0.84[EUR][1000 genomes]
rs9540790	0.84[EUR][1000 genomes]
rs9540791	0.84[EUR][1000 genomes]
rs9540792	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9540793	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9540794	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9540795	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9540796	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9540797	0.86[EUR][1000 genomes]
rs9540799	0.82[ASN][1000 genomes]
rs9540800	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9540801	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9540802	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9540803	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9540810	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9540812	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9540813	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9540817	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9540820	0.96[EUR][1000 genomes]
rs9540821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9540824	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9564320	0.82[ASN][1000 genomes]
rs9564321	0.83[ASN][1000 genomes]
rs9564322	0.83[ASN][1000 genomes]
rs9571595	0.82[ASN][1000 genomes]
rs9571596	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv900394	chr13:67090292-67180045	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv900395	chr13:67091922-67180045	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1048897	chr13:67093805-67175675	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1044410	chr13:67094314-67148488	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1042195	chr13:67094356-67143770	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv541812	chr13:67094356-67143770	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv900396	chr13:67095885-67166073	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv900397	chr13:67095885-67180045	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv471142	chr13:67098374-67169478	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv455923	chr13:67098375-67150760	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv562098	chr13:67098375-67150760	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv455924	chr13:67098375-67169478	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv455925	chr13:67098375-67169478	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv562099	chr13:67098375-67169478	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv455926	chr13:67098375-67200654	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv562100	chr13:67098375-67200654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv455927	chr13:67098855-67169478	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv562101	chr13:67098855-67169478	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1048293	chr13:67099206-67166073	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv2761797	chr13:67099218-67166073	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1047112	chr13:67103902-67166419	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv541813	chr13:67103902-67166419	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1037476	chr13:67104372-67146539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1037855	chr13:67104372-67168370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv541814	chr13:67104372-67168370	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1052817	chr13:67104372-67175675	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv541815	chr13:67104372-67175675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
40	nsv974212	chr13:67131313-67184740	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67131000-67139400	Weak transcription	Fetal Kidney	kidney
2	chr13:67131400-67141600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:67137800-67139600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:67138400-67138600	Enhancers	K562	blood

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