Variant report

Variant	esv3406514
Chromosome Location	chr20:41512763-41515311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149013292	chr20:41512794-41512795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534862866	chr20:41512841-41512842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188403637	chr20:41512904-41512905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554195898	chr20:41512924-41512925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535178197	chr20:41512946-41512947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567491337	chr20:41513010-41513011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536462971	chr20:41513042-41513043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137869406	chr20:41513045-41513046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548399307	chr20:41513061-41513062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575733066	chr20:41513073-41513074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544820537	chr20:41513138-41513139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568528654	chr20:41513142-41513143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558512685	chr20:41513145-41513146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143428690	chr20:41513155-41513156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539094419	chr20:41513162-41513163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6103084	chr20:41513167-41513168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6093754	chr20:41513179-41513180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6103085	chr20:41513191-41513192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73907295	chr20:41513192-41513193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529875960	chr20:41513240-41513241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6103086	chr20:41513287-41513288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147984642	chr20:41513331-41513332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563521743	chr20:41513367-41513368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555604292	chr20:41513368-41513369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370502074	chr20:41513378-41513379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6093755	chr20:41513398-41513399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551617416	chr20:41513403-41513404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140753041	chr20:41513417-41513418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527705710	chr20:41513487-41513488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548033794	chr20:41513546-41513547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567627381	chr20:41513563-41513564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536399255	chr20:41513567-41513568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369414133	chr20:41513568-41513569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542362359	chr20:41513577-41513578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556334088	chr20:41513578-41513579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372925466	chr20:41513615-41513616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567798424	chr20:41513657-41513658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569952616	chr20:41513659-41513660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117337584	chr20:41513758-41513759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35247354	chr20:41513766-41513767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556251008	chr20:41513800-41513801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575087037	chr20:41513892-41513893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144671988	chr20:41514058-41514059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6016913	chr20:41514089-41514090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6016914	chr20:41514117-41514118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6016915	chr20:41514120-41514121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117729844	chr20:41514121-41514122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536327244	chr20:41514124-41514125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543781060	chr20:41514156-41514157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529417	chr20:41514162-41514163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41511800-41517200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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