Variant report

Variant	esv3408330
Chromosome Location	chr16:52282476-52285024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187462486	chr16:52282495-52282496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114085874	chr16:52282531-52282532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554125599	chr16:52282535-52282536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190617393	chr16:52282549-52282550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182862878	chr16:52282576-52282577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539754552	chr16:52282581-52282582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575688632	chr16:52282619-52282620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558529582	chr16:52282620-52282621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560972231	chr16:52282667-52282668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530056981	chr16:52282694-52282695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142488937	chr16:52282707-52282708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560627258	chr16:52282759-52282760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146757781	chr16:52282768-52282769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552538755	chr16:52282791-52282792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13332324	chr16:52282805-52282806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569986243	chr16:52282820-52282821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531462168	chr16:52282831-52282832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55778536	chr16:52282839-52282840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548327939	chr16:52282853-52282854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568129563	chr16:52282931-52282932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533780477	chr16:52282935-52282936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553754366	chr16:52282957-52282958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570702622	chr16:52282961-52282962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539710384	chr16:52282964-52282965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556119186	chr16:52282983-52282984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576161583	chr16:52282987-52282988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541594388	chr16:52282990-52282991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554656366	chr16:52283009-52283010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574549955	chr16:52283025-52283026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540278398	chr16:52283035-52283036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78547995	chr16:52283040-52283041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149003181	chr16:52283050-52283051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577503599	chr16:52283054-52283055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546457356	chr16:52283080-52283081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76950906	chr16:52283084-52283085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540859466	chr16:52283109-52283110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187769715	chr16:52283116-52283117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11270313	chr16:52283135-52283136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191632940	chr16:52283136-52283137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565526593	chr16:52283137-52283138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561768331	chr16:52283145-52283146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143461173	chr16:52283158-52283159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182642763	chr16:52283159-52283160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370444970	chr16:52283222-52283223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375222990	chr16:52283223-52283224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377587540	chr16:52283224-52283225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370706664	chr16:52283226-52283227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375226424	chr16:52283227-52283228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368534983	chr16:52283398-52283399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371507991	chr16:52283399-52283400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Retinoblastoma	19183342	CNVD
Myelofibrosis	22110671	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52280400-52301000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:52284200-52286800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr16:52284200-52287600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr16:52284800-52287400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr16:52285000-52285200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr16:52285000-52286400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr16:52285000-52287400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr16:52285000-52287400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:52285000-52287400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:52285000-52287600	Enhancers	HUES64 Cell Line	embryonic stem cell

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