Variant report

Variant	rs8188639
Chromosome Location	chr8:47390610-47390611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10081488	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10088691	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10093554	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095766	0.89[EUR][1000 genomes]
rs10097511	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100588	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102249	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10102278	0.83[ASN][1000 genomes]
rs10104439	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10108580	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111799	1.00[ASN][1000 genomes]
rs10282942	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283174	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481351	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984696	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987815	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987863	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992118	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11994567	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11994624	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11996323	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12334361	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369622	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437599	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454380	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28494144	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28547430	0.81[ASN][1000 genomes]
rs28589634	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28619006	0.81[ASN][1000 genomes]
rs28656085	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28695414	0.81[ASN][1000 genomes]
rs28752230	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28769097	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28781924	0.81[ASN][1000 genomes]
rs28787654	0.81[ASN][1000 genomes]
rs28788598	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28791770	0.81[ASN][1000 genomes]
rs28800889	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28808649	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28809040	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28828814	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28832610	0.90[ASN][1000 genomes]
rs28840699	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28874707	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28892357	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949689	0.81[ASN][1000 genomes]
rs2974376	0.80[AFR][1000 genomes]
rs4364644	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422787	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4549783	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57189306	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58850303	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60412850	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999430	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016129	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7293691	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73572406	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73572415	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73574521	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73574586	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73576439	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73576502	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657345	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9657346	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657348	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018413	chr8:46847522-47436605	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1030943	chr8:46847522-47517000	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031244	chr8:46847522-47735165	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1032451	chr8:46847522-47743250	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1018479	chr8:46847522-47776897	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv2761184	chr8:46847534-47743262	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv611229	chr8:46902917-47439358	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1031161	chr8:46919261-47743250	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1020527	chr8:46923272-47432672	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv539580	chr8:46923272-47432672	Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1029976	chr8:46923272-47555196	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1021368	chr8:46923272-47599637	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv539581	chr8:46923272-47599637	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1034114	chr8:46923272-47698142	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv539582	chr8:46923272-47698142	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1025020	chr8:46924110-47743250	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv516063	chr8:46942842-47739851	ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1067670	chr8:46942956-47574071	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv529313	chr8:46942956-47574071	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv533858	chr8:46942956-47620905	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv1067672	chr8:46942956-47703687	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv532155	chr8:46942956-47703687	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv497819	chr8:46942962-47703693	Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv916550	chr8:46942962-47863337	Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv982079	chr8:46946757-47457829	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv1023818	chr8:46965599-47459610	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv539585	chr8:46965599-47459610	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv1020437	chr8:47013353-47432672	Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv1017335	chr8:47036657-47555196	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv611234	chr8:47060977-47679981	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
31	nsv465666	chr8:47060977-47739851	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
32	nsv611235	chr8:47060977-47739851	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
33	nsv1016829	chr8:47083849-47982647	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
34	nsv465669	chr8:47105157-47947701	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
35	nsv611241	chr8:47105157-47947701	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
36	nsv948803	chr8:47190621-47939976	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
37	nsv1034678	chr8:47199167-47533848	Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
38	nsv1015866	chr8:47222794-47454051	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv831306	chr8:47226153-47422735	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv1022097	chr8:47271657-47599637	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
41	nsv1021547	chr8:47352644-47416228	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
43	nsv1029273	chr8:47367842-47449082	ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv1024479	chr8:47367842-47454051	ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv1029524	chr8:47367842-47460933	ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
46	nsv1020866	chr8:47367842-47464053	ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
47	nsv611262	chr8:47374546-47407817	ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv611266	chr8:47376032-47407817	ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv611267	chr8:47376397-47399426	ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
50	esv2422266	chr8:47378467-47443588	ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47382000-47394000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:47383200-47391800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr8:47384600-47393000	ZNF genes & repeats	Liver	Liver

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