Variant report

Variant	esv3344893
Chromosome Location	chr16:77557383-77560003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539549818	chr16:77558800-77558801	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556147461	chr16:77558801-77558802	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78891392	chr16:77558844-77558845	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535353990	chr16:77558905-77558906	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs282906	chr16:77558914-77558915	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572123542	chr16:77558946-77558947	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372477581	chr16:77558953-77558954	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560370972	chr16:77558965-77558966	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546991650	chr16:77558967-77558968	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566718547	chr16:77558981-77558982	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142391527	chr16:77559017-77559018	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545916229	chr16:77559031-77559032	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535854516	chr16:77559038-77559039	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531631298	chr16:77559039-77559040	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116461764	chr16:77559103-77559104	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs282905	chr16:77559116-77559117	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375504452	chr16:77559118-77559119	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs527872647	chr16:77559122-77559123	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547931349	chr16:77559144-77559145	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112832128	chr16:77559172-77559173	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111685185	chr16:77559189-77559190	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs139523452	chr16:77559191-77559192	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35317022	chr16:77559192-77559193	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370150151	chr16:77559212-77559213	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs8063022	chr16:77559216-77559217	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs117952836	chr16:77559240-77559241	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569652250	chr16:77559263-77559264	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs116143839	chr16:77559274-77559275	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111480799	chr16:77559279-77559280	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572343165	chr16:77559283-77559284	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534620146	chr16:77559287-77559288	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs28793023	chr16:77559296-77559297	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs149681187	chr16:77559300-77559301	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545879360	chr16:77559323-77559324	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562674160	chr16:77559332-77559333	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs147771630	chr16:77559335-77559336	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs28877569	chr16:77559336-77559337	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561948643	chr16:77559362-77559363	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527941101	chr16:77559365-77559366	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541380998	chr16:77559417-77559418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573626662	chr16:77559440-77559441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113397221	chr16:77559480-77559481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9931391	chr16:77559502-77559503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs9931471	chr16:77559548-77559549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549879924	chr16:77559549-77559550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535944839	chr16:77559554-77559555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187508344	chr16:77559570-77559571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9930850	chr16:77559583-77559584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149093624	chr16:77559585-77559586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143144517	chr16:77559586-77559587	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
small cell lung cancer	20016488	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
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77558800-77559400	Flanking Active TSS	HepG2	liver
2	chr16:77559400-77559800	Enhancers	HepG2	liver

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