Variant report

Variant	nsv10280
Chromosome Location	chr3:75350220-75357704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs142598836	chr3:75350294-75350295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576577473	chr3:75350306-75350307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116925590	chr3:75350448-75350449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192799192	chr3:75350449-75350450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574073885	chr3:75350586-75350587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184147067	chr3:75350623-75350624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563443915	chr3:75350657-75350658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150986420	chr3:75350658-75350659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552134394	chr3:75350674-75350675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564261792	chr3:75350733-75350734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532684865	chr3:75350774-75350775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548803677	chr3:75350796-75350797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112232696	chr3:75350802-75350803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547887188	chr3:75350863-75350864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566148661	chr3:75350870-75350871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12490207	chr3:75350891-75350892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544102976	chr3:75350922-75350923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536267837	chr3:75350941-75350942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548525327	chr3:75350942-75350943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570259075	chr3:75350965-75350966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537749685	chr3:75351062-75351063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558766890	chr3:75351105-75351106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375243821	chr3:75351114-75351115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577008754	chr3:75351199-75351200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557290307	chr3:75351242-75351243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534441026	chr3:75351317-75351318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552673575	chr3:75351323-75351324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115093930	chr3:75351333-75351334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188700836	chr3:75351359-75351360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556913577	chr3:75351538-75351539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575489748	chr3:75351553-75351554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546059400	chr3:75351563-75351564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369273958	chr3:75351564-75351565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199671907	chr3:75351678-75351679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181127533	chr3:75351706-75351707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117207452	chr3:75351731-75351732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540393984	chr3:75351732-75351733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559897591	chr3:75351762-75351763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530165331	chr3:75351771-75351772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149705986	chr3:75351772-75351773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570023537	chr3:75351812-75351813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184094783	chr3:75351813-75351814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189173009	chr3:75351827-75351828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147769645	chr3:75351842-75351843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181708374	chr3:75351849-75351850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560985070	chr3:75351894-75351895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553102850	chr3:75351928-75351929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187634436	chr3:75351945-75351946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141164405	chr3:75351967-75351968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147108997	chr3:75352036-75352037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75349600-75351000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:75349800-75351200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:75349800-75351600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:75350000-75350600	Weak transcription	Lung	lung
5	chr3:75350000-75351000	Enhancers	Fetal Lung	lung
6	chr3:75350600-75351400	Enhancers	Lung	lung
7	chr3:75351000-75352200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:75351000-75352600	Weak transcription	Fetal Lung	lung
9	chr3:75351200-75352000	Enhancers	Fetal Muscle Leg	muscle
10	chr3:75351400-75352400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:75352600-75353000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr3:75352600-75353600	Enhancers	Fetal Lung	lung
13	chr3:75353200-75354200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:75353400-75353600	Enhancers	Aorta	Aorta

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