Variant report

Variant	nsv518235
Chromosome Location	chr16:76203282-76211486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574580878	chr16:76210013-76210014	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533913735	chr16:76210020-76210021	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs138544339	chr16:76210022-76210023	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576765245	chr16:76210023-76210024	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185943437	chr16:76210036-76210037	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376034444	chr16:76210087-76210088	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143951074	chr16:76210108-76210109	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs533642089	chr16:76210173-76210174	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114421268	chr16:76210183-76210184	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370876772	chr16:76210185-76210186	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536082497	chr16:76210196-76210197	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191200649	chr16:76210197-76210198	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs146797194	chr16:76210326-76210327	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs137984747	chr16:76210327-76210328	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs180901922	chr16:76210351-76210352	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562481566	chr16:76210362-76210363	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75269534	chr16:76210371-76210372	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550180653	chr16:76210373-76210374	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141696866	chr16:76210377-76210378	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186321623	chr16:76210457-76210458	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548393546	chr16:76210460-76210461	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568269817	chr16:76210461-76210462	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150505370	chr16:76210464-76210465	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553926090	chr16:76210491-76210492	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576738161	chr16:76210495-76210496	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs16943932	chr16:76210542-76210543	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76284976	chr16:76210593-76210594	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs72794909	chr16:76210598-76210599	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542159053	chr16:76210600-76210601	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs137949635	chr16:76210610-76210611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369692187	chr16:76210620-76210621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139483464	chr16:76210625-76210626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370812830	chr16:76210700-76210701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541101748	chr16:76210701-76210702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16943934	chr16:76210722-76210723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs111771645	chr16:76210727-76210728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190198412	chr16:76210732-76210733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553425896	chr16:76210742-76210743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116644173	chr16:76210753-76210754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563740742	chr16:76210799-76210800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77637895	chr16:76210825-76210826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16943982	chr16:76210853-76210854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542450792	chr16:76210866-76210867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562534531	chr16:76210917-76210918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146258382	chr16:76210940-76210941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533992920	chr16:76210960-76210961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139418285	chr16:76211012-76211013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375867230	chr16:76211049-76211050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570432646	chr16:76211051-76211052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182759138	chr16:76211059-76211060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76210000-76210400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76210000-76210600	Active TSS	GM12878-XiMat	blood
3	chr16:76210400-76227600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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