Variant report

Variant	nsv519465
Chromosome Location	chr16:81999406-82002104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81997233..81999560-chr16:82004652..82006367,2	MCF-7	breast:
2	chr16:81978616..81980367-chr16:81998471..82000171,2	MCF-7	breast:
3	chr16:81988776..81991371-chr16:81998341..82001149,2	MCF-7	breast:

Extended variants
information (count: 161 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9938764	chr16:81999406-81999407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201836120	chr16:81999414-81999415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191296336	chr16:81999416-81999417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147286824	chr16:81999421-81999422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199971764	chr16:81999423-81999424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541022039	chr16:81999460-81999461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9941015	chr16:81999495-81999496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9938835	chr16:81999513-81999514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541932246	chr16:81999517-81999518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563822890	chr16:81999536-81999537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545664874	chr16:81999548-81999549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530711309	chr16:81999598-81999599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552432404	chr16:81999604-81999605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183053091	chr16:81999606-81999607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186788703	chr16:81999617-81999618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546926021	chr16:81999632-81999633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567919045	chr16:81999661-81999662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535453385	chr16:81999691-81999692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75475984	chr16:81999705-81999706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112492652	chr16:81999714-81999715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144671779	chr16:81999723-81999724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7198946	chr16:81999757-81999758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113242550	chr16:81999772-81999773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577108757	chr16:81999781-81999782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4888200	chr16:81999826-81999827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574709925	chr16:81999844-81999845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567530053	chr16:81999847-81999848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190489447	chr16:81999869-81999870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115291791	chr16:81999888-81999889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575854744	chr16:81999909-81999910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546011708	chr16:81999910-81999911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564233511	chr16:81999969-81999970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528299054	chr16:81999970-81999971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183028237	chr16:81999976-81999977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562030083	chr16:81999994-81999995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187707770	chr16:82000007-82000008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4888201	chr16:82000020-82000021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568605928	chr16:82000034-82000035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192622553	chr16:82000051-82000052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551068106	chr16:82000057-82000058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570661997	chr16:82000104-82000105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371081889	chr16:82000107-82000108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573424831	chr16:82000118-82000119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182667212	chr16:82000153-82000154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553377614	chr16:82000175-82000176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187621873	chr16:82000176-82000177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535481431	chr16:82000198-82000199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192820414	chr16:82000223-82000224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199575721	chr16:82000232-82000233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199646739	chr16:82000234-82000235	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
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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81982600-82007000	Weak transcription	Gastric	stomach
2	chr16:81993400-81999600	Weak transcription	Liver	Liver
3	chr16:81994800-82000800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr16:81999600-81999800	Enhancers	Liver	Liver
5	chr16:82000800-82001600	Enhancers	Primary B cells from peripheral blood	blood

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