Variant report

Variant	nsv522382
Chromosome Location	chr16:58865022-58871279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11646417	chr16:58865022-58865023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184029553	chr16:58865033-58865034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150866393	chr16:58865045-58865046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139099605	chr16:58865080-58865081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75253268	chr16:58865088-58865089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202243509	chr16:58865090-58865091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74887884	chr16:58865091-58865092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35176146	chr16:58865092-58865093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397838993	chr16:58865095-58865096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576271412	chr16:58865101-58865102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370146081	chr16:58865108-58865109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543289512	chr16:58865131-58865132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564821714	chr16:58865146-58865147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562407482	chr16:58865152-58865153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376183068	chr16:58865153-58865154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77343883	chr16:58865223-58865224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541067532	chr16:58865275-58865276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111763664	chr16:58865280-58865281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559395553	chr16:58865293-58865294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529217425	chr16:58865322-58865323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529777209	chr16:58865440-58865441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549537876	chr16:58865454-58865455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561336020	chr16:58865601-58865602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531854220	chr16:58865616-58865617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78297699	chr16:58865619-58865620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571269347	chr16:58865629-58865630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186260869	chr16:58865631-58865632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547436176	chr16:58865650-58865651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369272142	chr16:58865675-58865676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs67987436	chr16:58865687-58865688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145205201	chr16:58865688-58865689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113722184	chr16:58865693-58865694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566144063	chr16:58865695-58865696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62066392	chr16:58865735-58865736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs398029547	chr16:58865739-58865740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367835812	chr16:58865747-58865748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536381530	chr16:58865763-58865764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190327822	chr16:58865783-58865784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12599522	chr16:58865800-58865801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562727649	chr16:58865845-58865846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537301120	chr16:58865883-58865884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377032694	chr16:58865911-58865912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182928550	chr16:58865930-58865931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143887053	chr16:58866012-58866013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541002544	chr16:58866024-58866025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113365461	chr16:58866059-58866060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75206799	chr16:58866092-58866093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139804164	chr16:58866152-58866153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs59707716	chr16:58866304-58866305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533768997	chr16:58866307-58866308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58864400-58865200	Weak transcription	Fetal Brain Male	brain
2	chr16:58865000-58867400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:58865200-58865600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:58865200-58865800	Enhancers	Fetal Brain Male	brain
5	chr16:58865600-58866800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:58866400-58866800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr16:58866400-58866800	Enhancers	A549	lung
8	chr16:58866800-58867200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:58870200-58870800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr16:58870400-58870800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:58870400-58870800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:58871000-58871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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