Variant report

Variant	nsv590563
Chromosome Location	chr3:68402933-68422687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 415 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1491753	chr3:68402933-68402934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181060499	chr3:68402969-68402970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78853549	chr3:68402970-68402971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9824696	chr3:68403020-68403021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564668419	chr3:68403023-68403024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530509295	chr3:68403026-68403027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550794789	chr3:68403113-68403114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567345910	chr3:68403190-68403191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184872650	chr3:68403208-68403209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546589438	chr3:68403222-68403223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548892088	chr3:68403230-68403231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566207942	chr3:68403231-68403232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116176403	chr3:68403251-68403252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535044662	chr3:68403267-68403268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35665922	chr3:68403307-68403308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397989980	chr3:68403317-68403318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76322192	chr3:68403318-68403319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551783828	chr3:68403336-68403337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543404299	chr3:68403339-68403340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571810394	chr3:68403363-68403364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537143662	chr3:68403391-68403392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57871776	chr3:68403457-68403458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190518817	chr3:68403491-68403492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137869262	chr3:68403515-68403516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553274710	chr3:68403527-68403528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374025377	chr3:68403550-68403551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143750159	chr3:68403553-68403554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181736146	chr3:68403561-68403562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564532862	chr3:68403592-68403593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs262250	chr3:68403593-68403594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186636339	chr3:68403599-68403600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376922091	chr3:68403634-68403635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28708548	chr3:68403637-68403638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529864265	chr3:68403645-68403646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138871092	chr3:68403653-68403654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190301359	chr3:68403672-68403673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532438354	chr3:68403682-68403683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551845419	chr3:68403808-68403809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149297655	chr3:68403835-68403836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537744203	chr3:68403839-68403840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537409478	chr3:68403935-68403936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144749497	chr3:68403948-68403949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547741538	chr3:68404015-68404016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567719769	chr3:68404024-68404025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536476669	chr3:68404086-68404087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200627926	chr3:68404120-68404121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553137603	chr3:68404126-68404127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573245202	chr3:68404165-68404166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117810053	chr3:68404170-68404171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181057176	chr3:68404171-68404172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68401800-68403200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:68402200-68403200	Enhancers	Adipose Nuclei	Adipose
3	chr3:68402800-68403200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:68403200-68407800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:68405600-68408400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:68407800-68409200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:68411600-68413400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:68412400-68413600	Enhancers	Fetal Brain Male	brain
9	chr3:68416200-68416800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:68421000-68421600	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links