Variant report

Variant	esv3377398
Chromosome Location	chr3:480902-483100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs181846921	chr3:480902-480903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114774933	chr3:480904-480905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141497351	chr3:480910-480911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570006914	chr3:480911-480912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538705549	chr3:480912-480913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12632284	chr3:480993-480994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573458226	chr3:480996-480997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150460016	chr3:481002-481003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114489283	chr3:481034-481035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116515235	chr3:481058-481059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544586611	chr3:481073-481074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562495108	chr3:481084-481085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184725005	chr3:481097-481098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545084445	chr3:481106-481107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138288446	chr3:481114-481115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527492180	chr3:481119-481120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34324098	chr3:481143-481144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536805761	chr3:481145-481146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368504481	chr3:481147-481148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560937803	chr3:481162-481163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531590535	chr3:481177-481178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550124144	chr3:481184-481185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571225438	chr3:481217-481218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576858002	chr3:481226-481227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142882722	chr3:481235-481236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115886249	chr3:481282-481283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534121472	chr3:481293-481294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146055200	chr3:481304-481305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576513741	chr3:481317-481318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188042557	chr3:481342-481343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140043400	chr3:481346-481347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142657637	chr3:481353-481354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555217320	chr3:481371-481372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545048834	chr3:481384-481385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6804438	chr3:481394-481395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572465448	chr3:481414-481415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542761046	chr3:481448-481449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561111292	chr3:481463-481464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114522438	chr3:481477-481478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550081752	chr3:481499-481500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552673284	chr3:481557-481558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116525152	chr3:481558-481559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76690705	chr3:481568-481569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180932155	chr3:481571-481572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565548636	chr3:481575-481576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148692566	chr3:481627-481628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34097847	chr3:481648-481649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200354906	chr3:481649-481650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548002396	chr3:481667-481668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201153062	chr3:481676-481677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:477800-482200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:480400-481200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:482200-483200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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