Variant report

Variant	nsv180044
Chromosome Location	chr20:15439285-15448937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71340228	chr20:15439285-15439286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2327920	chr20:15439286-15439287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74933746	chr20:15439293-15439294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139074995	chr20:15439296-15439297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560836300	chr20:15439300-15439301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76531914	chr20:15439323-15439324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546650482	chr20:15439331-15439332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76276435	chr20:15439332-15439333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6110610	chr20:15439337-15439338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532479375	chr20:15439356-15439357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369290316	chr20:15439377-15439378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549341871	chr20:15439411-15439412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550465412	chr20:15439421-15439422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569039655	chr20:15439429-15439430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11906045	chr20:15439537-15439538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548293263	chr20:15439549-15439550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6110611	chr20:15439565-15439566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6110612	chr20:15439661-15439662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560722852	chr20:15439698-15439699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528067126	chr20:15439728-15439729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564448218	chr20:15439798-15439799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533910156	chr20:15439822-15439823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572266529	chr20:15439844-15439845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558955734	chr20:15439855-15439856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145942011	chr20:15439905-15439906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538539766	chr20:15439949-15439950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74174519	chr20:15440030-15440031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113521799	chr20:15440031-15440032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6135415	chr20:15440032-15440033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113310743	chr20:15440082-15440083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116502018	chr20:15440107-15440108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180873999	chr20:15440159-15440160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573023276	chr20:15440166-15440167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377548927	chr20:15440189-15440190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370405813	chr20:15440218-15440219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564909337	chr20:15440257-15440258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185946204	chr20:15440260-15440261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532263016	chr20:15440273-15440274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192072290	chr20:15440274-15440275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139787589	chr20:15440277-15440278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529478508	chr20:15440293-15440294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181807149	chr20:15440328-15440329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186046419	chr20:15440363-15440364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566621420	chr20:15440381-15440382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534066480	chr20:15440388-15440389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552248765	chr20:15440408-15440409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75506725	chr20:15440471-15440472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115956078	chr20:15440608-15440609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190453624	chr20:15440617-15440618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114916354	chr20:15440618-15440619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15439000-15440800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr20:15440800-15441200	Enhancers	Primary B cells from peripheral blood	blood
3	chr20:15440800-15441200	Enhancers	Dnd41	blood
4	chr20:15440800-15441400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr20:15442600-15443600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:15447800-15449400	Enhancers	Brain Germinal Matrix	brain
7	chr20:15448600-15449400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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