Variant report

Variant	nsv946449
Chromosome Location	chr1:159281974-159283532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181877061	chr1:159281974-159281975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534549961	chr1:159281999-159282000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546787567	chr1:159282009-159282010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2427829	chr1:159282011-159282012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs150746069	chr1:159282026-159282027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557253250	chr1:159282076-159282077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373808244	chr1:159282154-159282155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187372268	chr1:159282172-159282173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536243000	chr1:159282224-159282225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571241010	chr1:159282281-159282282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537094810	chr1:159282428-159282429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190203521	chr1:159282504-159282505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539919235	chr1:159282527-159282528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577198763	chr1:159282556-159282557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574188725	chr1:159282581-159282582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559521051	chr1:159282625-159282626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182434266	chr1:159282658-159282659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77383163	chr1:159282664-159282665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185178241	chr1:159282672-159282673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77632281	chr1:159282688-159282689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34884414	chr1:159282689-159282690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74673505	chr1:159282692-159282693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397748717	chr1:159282708-159282709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556491240	chr1:159282712-159282713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551391682	chr1:159282724-159282725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549343754	chr1:159282725-159282726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541849336	chr1:159282782-159282783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556488501	chr1:159282797-159282798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576675657	chr1:159282808-159282809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561091712	chr1:159282858-159282859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373457255	chr1:159282888-159282889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375988014	chr1:159282889-159282890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565021665	chr1:159282890-159282891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370829810	chr1:159282894-159282895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563525887	chr1:159282908-159282909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397783760	chr1:159282911-159282912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12116553	chr1:159282914-159282915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528608138	chr1:159282963-159282964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546731255	chr1:159282979-159282980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139415095	chr1:159282980-159282981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538827652	chr1:159282985-159282986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67351174	chr1:159282992-159282993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12116594	chr1:159282997-159282998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145021391	chr1:159283067-159283068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12116625	chr1:159283078-159283079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542497232	chr1:159283106-159283107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576337346	chr1:159283168-159283169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147575307	chr1:159283171-159283172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182604887	chr1:159283188-159283189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185846247	chr1:159283198-159283199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19602461	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159279200-159284400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:159279800-159284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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