Variant report

Variant	nsv523980
Chromosome Location	chr16:82398797-82401055
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	chr16:82400970..82402265-chr16:82489997..82490801,4	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11867047	chr16:82398797-82398798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563121302	chr16:82398863-82398864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188173007	chr16:82398888-82398889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192132855	chr16:82398894-82398895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184559530	chr16:82398896-82398897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142272251	chr16:82398905-82398906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573971259	chr16:82398909-82398910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544625307	chr16:82398911-82398912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563087691	chr16:82398916-82398917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187684520	chr16:82398920-82398921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113061206	chr16:82398941-82398942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540756721	chr16:82398946-82398947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377110972	chr16:82398949-82398950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551805119	chr16:82398968-82398969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560586213	chr16:82398982-82398983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527821746	chr16:82399007-82399008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146359052	chr16:82399025-82399026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192580188	chr16:82399082-82399083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538136704	chr16:82399115-82399116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549819487	chr16:82399127-82399128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551976863	chr16:82399179-82399180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571376514	chr16:82399199-82399200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538480571	chr16:82399200-82399201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553931171	chr16:82399201-82399202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560961885	chr16:82399215-82399216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553794595	chr16:82399219-82399220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565728092	chr16:82399220-82399221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571790604	chr16:82399245-82399246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183658172	chr16:82399252-82399253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528076907	chr16:82399253-82399254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577052387	chr16:82399308-82399309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78856485	chr16:82399360-82399361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9934337	chr16:82399382-82399383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544848173	chr16:82399387-82399388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138443661	chr16:82399402-82399403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142852238	chr16:82399493-82399494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116450065	chr16:82399511-82399512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560696595	chr16:82399518-82399519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556658154	chr16:82399522-82399523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9924011	chr16:82399575-82399576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549541755	chr16:82399627-82399628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189389276	chr16:82399636-82399637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531614481	chr16:82399645-82399646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550023504	chr16:82399667-82399668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536928215	chr16:82399683-82399684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9923538	chr16:82399697-82399698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148746726	chr16:82399715-82399716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112536137	chr16:82399736-82399737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9934649	chr16:82399758-82399759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539186072	chr16:82399782-82399783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82393200-82401800	Weak transcription	Gastric	stomach
2	chr16:82399600-82400000	Enhancers	HMEC	breast
3	chr16:82400600-82400800	Weak transcription	Aorta	Aorta
4	chr16:82400800-82401000	ZNF genes & repeats	Aorta	Aorta
5	chr16:82401000-82401200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:82401000-82402800	Weak transcription	Aorta	Aorta

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