Variant report

Variant	rs6030388
Chromosome Location	chr20:41263383-41263384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1040480	1.00[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs10854226	0.82[JPT][hapmap]
rs11696144	1.00[CEU][hapmap]
rs11697778	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs11699599	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs11908408	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12106100	0.94[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs13039393	0.82[JPT][hapmap]
rs13045128	0.82[JPT][hapmap]
rs13045132	0.82[JPT][hapmap]
rs17810209	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs17810239	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs17810257	0.82[JPT][hapmap]
rs17841999	0.88[CEU][hapmap]
rs1883842	0.82[JPT][hapmap]
rs2223541	0.86[GIH][hapmap]
rs2867487	1.00[CEU][hapmap]
rs2867488	1.00[CEU][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap]
rs4508660	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs55780401	0.81[EUR][1000 genomes]
rs58098862	0.81[EUR][1000 genomes]
rs60154566	0.82[EUR][1000 genomes]
rs6016846	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs6016852	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs6016855	0.82[CHD][hapmap]
rs6030352	0.82[JPT][hapmap]
rs6030353	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs6030354	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs6030356	0.82[JPT][hapmap]
rs6030360	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs6030363	0.87[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap]
rs6030366	0.94[CEU][hapmap]
rs6030367	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs6030368	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs6030370	0.94[CEU][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap]
rs6030371	0.82[JPT][hapmap]
rs6030372	1.00[ASW][hapmap];0.94[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.86[TSI][hapmap]
rs6030380	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs6030382	0.94[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]
rs6030383	0.80[EUR][1000 genomes]
rs6030384	0.88[CEU][hapmap]
rs6030385	0.88[CEU][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.93[YRI][hapmap]
rs6030390	0.86[GIH][hapmap]
rs6093686	0.94[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs6093693	0.82[JPT][hapmap]
rs6093694	0.82[JPT][hapmap]
rs6093695	0.82[JPT][hapmap]
rs6093696	0.82[EUR][1000 genomes]
rs6093697	0.82[JPT][hapmap]
rs6093699	0.93[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs6093708	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6102923	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs6102924	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs6102925	0.94[CEU][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap]
rs6102926	0.94[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]
rs6102928	0.82[JPT][hapmap]
rs6102932	0.94[CEU][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap]
rs6102936	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs6102937	0.88[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]
rs6102950	1.00[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]
rs6102951	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs6102952	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs6102953	0.81[EUR][1000 genomes]
rs62203850	0.80[EUR][1000 genomes]
rs7274157	0.82[JPT][hapmap]
rs7274201	0.82[JPT][hapmap]
rs73110485	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110497	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7360934	0.94[CEU][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs7360961	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs7361360	0.93[CEU][hapmap]
rs7362850	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs7362882	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs7362883	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs761009	0.86[GIH][hapmap]
rs8114527	0.82[JPT][hapmap]
rs8114592	0.82[JPT][hapmap]
rs8114928	0.82[JPT][hapmap]
rs8119203	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs8121332	0.82[JPT][hapmap]
rs8121443	0.94[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap]
rs8124013	0.82[JPT][hapmap]
rs874921	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs874922	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs874923	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs909862	1.00[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs909863	1.00[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]
rs909864	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs9974028	0.94[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1064253	chr20:41120425-41379706	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv586006	chr20:41157707-41290936	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1063513	chr20:41171076-41303205	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv912876	chr20:41174693-41296994	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv915994	chr20:41180550-41464507	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv526415	chr20:41184009-41290936	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1063974	chr20:41185138-41292788	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv586018	chr20:41188318-41297693	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv532517	chr20:41188651-41342196	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv528161	chr20:41202935-41297693	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv949644	chr20:41207365-41333541	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1066966	chr20:41211604-41272850	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1056856	chr20:41214474-41263409	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv912878	chr20:41222480-41361424	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1067538	chr20:41225020-41284395	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1066761	chr20:41226302-41269430	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1055687	chr20:41227592-41284395	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv833988	chr20:41227788-41379921	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv432121	chr20:41228586-41277097	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv458980	chr20:41228738-41284782	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv586022	chr20:41228738-41284782	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv586023	chr20:41228738-41297693	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv912879	chr20:41229217-41285978	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv432122	chr20:41230786-41281086	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv912880	chr20:41238504-41296994	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv458981	chr20:41240700-41290936	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv586024	chr20:41240700-41290936	Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv912881	chr20:41240700-41296994	Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv912882	chr20:41240700-41296994	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv1057771	chr20:41241208-41287845	Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv912883	chr20:41243236-41269321	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv912884	chr20:41243236-41273663	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	nsv912885	chr20:41243236-41284395	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv912886	chr20:41243236-41296994	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	nsv912887	chr20:41243236-41296994	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv912888	chr20:41243236-41302843	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	nsv432125	chr20:41250407-41269321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	nsv1059955	chr20:41250407-41269430	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv1066610	chr20:41250407-41272850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv2756739	chr20:41252905-41277097	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
42	esv2758795	chr20:41252905-41277097	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
43	esv2754684	chr20:41253081-41281104	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv1057887	chr20:41253498-41272850	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
45	esv2760672	chr20:41253498-41279219	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv586025	chr20:41254183-41278325	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv817896	chr20:41254693-41278325	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv1059377	chr20:41255601-41272850	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
49	nsv1060248	chr20:41255601-41277097	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
50	esv2752939	chr20:41255613-41277097	Enhancers Weak transcription	n/a	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	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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