Variant report

Variant	nsv159281
Chromosome Location	chr1:239466450-239471109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs544170166	chr1:239466460-239466461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562379842	chr1:239466487-239466488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561835349	chr1:239466510-239466511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529461118	chr1:239466511-239466512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138804439	chr1:239466523-239466524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548683257	chr1:239466577-239466578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34261653	chr1:239466588-239466589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116370900	chr1:239466604-239466605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527682006	chr1:239466620-239466621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552240829	chr1:239466630-239466631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142823193	chr1:239466644-239466645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548030546	chr1:239466651-239466652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559761253	chr1:239466663-239466664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565223624	chr1:239466680-239466681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538121112	chr1:239466736-239466737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538503849	chr1:239466752-239466753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71644974	chr1:239466761-239466762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568301277	chr1:239466766-239466767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77030531	chr1:239466767-239466768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142529516	chr1:239466777-239466778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374554196	chr1:239466778-239466779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144692072	chr1:239466785-239466786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184300220	chr1:239466787-239466788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572001814	chr1:239466795-239466796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147897817	chr1:239466808-239466809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59917840	chr1:239466818-239466819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539430514	chr1:239466822-239466823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10733122	chr1:239466838-239466839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576310162	chr1:239466841-239466842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543329175	chr1:239466893-239466894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10733123	chr1:239466899-239466900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573867961	chr1:239466917-239466918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190466536	chr1:239466980-239466981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181763873	chr1:239467034-239467035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10733124	chr1:239467083-239467084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141394778	chr1:239467096-239467097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10925866	chr1:239467144-239467145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564294180	chr1:239467194-239467195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528718470	chr1:239467230-239467231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150822858	chr1:239467273-239467274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371683325	chr1:239467286-239467287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550053552	chr1:239467297-239467298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142186600	chr1:239467314-239467315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568362692	chr1:239467322-239467323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74524592	chr1:239467328-239467329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547547544	chr1:239467339-239467340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138265115	chr1:239467371-239467372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565807571	chr1:239467381-239467382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539134639	chr1:239467406-239467407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557761832	chr1:239467467-239467468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239457800-239472200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:239464600-239466600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:239466400-239472600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:239469600-239470600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:239470800-239471000	Enhancers	Ovary	ovary
6	chr1:239471000-239472400	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links