Variant report

Variant	nsv519337
Chromosome Location	chr1:189763755-189777241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs7551425	chr1:189763755-189763756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35404218	chr1:189763804-189763805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548556189	chr1:189763809-189763810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559223783	chr1:189763810-189763811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147489749	chr1:189763812-189763813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77879791	chr1:189763815-189763816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74581395	chr1:189763816-189763817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12145279	chr1:189763819-189763820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12118153	chr1:189763825-189763826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71519085	chr1:189763826-189763827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9427690	chr1:189763832-189763833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571823669	chr1:189763839-189763840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71131208	chr1:189763842-189763843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537217158	chr1:189763862-189763863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551320212	chr1:189763865-189763866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538989714	chr1:189763889-189763890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536676396	chr1:189763921-189763922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553391622	chr1:189763951-189763952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554232005	chr1:189763974-189763975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11580958	chr1:189763978-189763979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7516854	chr1:189763989-189763990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs71637217	chr1:189764013-189764014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558741502	chr1:189764017-189764018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577783556	chr1:189764067-189764068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374981873	chr1:189764068-189764069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373158649	chr1:189764106-189764107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543183358	chr1:189764121-189764122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556864285	chr1:189764143-189764144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140925629	chr1:189764147-189764148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117735579	chr1:189764170-189764171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559303491	chr1:189764179-189764180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555594080	chr1:189764202-189764203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10919752	chr1:189764212-189764213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564802951	chr1:189764290-189764291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543947702	chr1:189764297-189764298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539935309	chr1:189764301-189764302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7554297	chr1:189764331-189764332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9427691	chr1:189764356-189764357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567998072	chr1:189764363-189764364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148494245	chr1:189764370-189764371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371730746	chr1:189764371-189764372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554287287	chr1:189764375-189764376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150101225	chr1:189764379-189764380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546928790	chr1:189764384-189764385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566867895	chr1:189764411-189764412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538621520	chr1:189764418-189764419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559031230	chr1:189764436-189764437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558426981	chr1:189764521-189764522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138914573	chr1:189764556-189764557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374900619	chr1:189764586-189764587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189761800-189765400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:189773400-189773800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:189773400-189773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:189773400-189773800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:189773400-189774000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:189773400-189774000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:189773400-189774000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:189773400-189774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:189773400-189774000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:189773400-189774200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:189773600-189774000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:189774600-189775800	Enhancers	HUVEC	blood vessel
13	chr1:189774800-189775600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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