Variant report

Variant	nsv965356
Chromosome Location	chr3:68406905-68410170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572053785	chr3:68406915-68406916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534605115	chr3:68406926-68406927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557587802	chr3:68407002-68407003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576839265	chr3:68407011-68407012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545849774	chr3:68407020-68407021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs262243	chr3:68407029-68407030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115182441	chr3:68407040-68407041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs262242	chr3:68407054-68407055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542519387	chr3:68407152-68407153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562264694	chr3:68407187-68407188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527842349	chr3:68407189-68407190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185441160	chr3:68407190-68407191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548795047	chr3:68407201-68407202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113034534	chr3:68407213-68407214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564736059	chr3:68407261-68407262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559592416	chr3:68407270-68407271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532967936	chr3:68407322-68407323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs262241	chr3:68407323-68407324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569769387	chr3:68407337-68407338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540139974	chr3:68407413-68407414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367763138	chr3:68407427-68407428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528973285	chr3:68407439-68407440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188690099	chr3:68407467-68407468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180769637	chr3:68407591-68407592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111730545	chr3:68407606-68407607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551593442	chr3:68407611-68407612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534472427	chr3:68407632-68407633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146268370	chr3:68407646-68407647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185853754	chr3:68407706-68407707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539855368	chr3:68407751-68407752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556272617	chr3:68407766-68407767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576528223	chr3:68407770-68407771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572203231	chr3:68407774-68407775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555857219	chr3:68407810-68407811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565414153	chr3:68407822-68407823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572694024	chr3:68407829-68407830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541318473	chr3:68407831-68407832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541612669	chr3:68407834-68407835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564801464	chr3:68407844-68407845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530880343	chr3:68407868-68407869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs63108	chr3:68407880-68407881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148267830	chr3:68407890-68407891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113946240	chr3:68407901-68407902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567511540	chr3:68407951-68407952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530423711	chr3:68407974-68407975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141278581	chr3:68407988-68407989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191055275	chr3:68408001-68408002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548681621	chr3:68408013-68408014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565405776	chr3:68408027-68408028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200638134	chr3:68408036-68408037	Weak transcription Enhancers	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68403200-68407800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:68405600-68408400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:68407800-68409200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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