Variant report

Variant	nsv827772
Chromosome Location	chr16:80270998-80283721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80264628..80267560-chr16:80268812..80271604,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549784209	chr16:80280022-80280023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565942504	chr16:80280027-80280028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185518699	chr16:80280040-80280041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569730669	chr16:80280056-80280057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563295172	chr16:80280084-80280085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188316905	chr16:80280109-80280110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532479602	chr16:80280140-80280141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576784275	chr16:80280146-80280147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534630682	chr16:80280155-80280156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200992570	chr16:80280162-80280163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553686763	chr16:80280163-80280164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112371491	chr16:80280171-80280172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181016813	chr16:80280177-80280178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542437975	chr16:80280218-80280219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563731227	chr16:80280221-80280222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116034226	chr16:80280223-80280224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545994568	chr16:80280225-80280226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564479873	chr16:80280249-80280250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552381509	chr16:80280264-80280265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528448238	chr16:80280272-80280273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374333567	chr16:80280274-80280275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185999693	chr16:80280371-80280372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529985477	chr16:80280411-80280412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370231621	chr16:80280422-80280423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146733685	chr16:80280423-80280424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140323941	chr16:80280500-80280501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12102512	chr16:80280507-80280508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145572733	chr16:80280520-80280521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138062915	chr16:80280523-80280524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553048743	chr16:80280553-80280554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574052703	chr16:80280559-80280560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548332919	chr16:80280567-80280568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575137494	chr16:80280583-80280584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536162287	chr16:80280589-80280590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149045388	chr16:80280604-80280605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575774264	chr16:80280640-80280641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372436216	chr16:80280657-80280658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546408232	chr16:80280659-80280660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557957671	chr16:80280660-80280661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573043971	chr16:80280694-80280695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111831838	chr16:80280698-80280699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183914603	chr16:80280730-80280731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143022748	chr16:80280734-80280735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541774737	chr16:80280750-80280751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73577700	chr16:80280761-80280762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530601599	chr16:80280762-80280763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7189651	chr16:80280772-80280773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570557166	chr16:80280793-80280794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148227480	chr16:80280803-80280804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546576895	chr16:80280858-80280859	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Autism	22495311	CNVD
Wilms tumour	21544195	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80280000-80280600	Enhancers	Fetal Lung	lung
2	chr16:80280600-80281400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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