Variant report

Variant	esv3327998
Chromosome Location	chr3:83478662-83482560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549401245	chr3:83478665-83478666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569156984	chr3:83478672-83478673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138619238	chr3:83478696-83478697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537777696	chr3:83478710-83478711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557616437	chr3:83478748-83478749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58593202	chr3:83478750-83478751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192497619	chr3:83478756-83478757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553458479	chr3:83478765-83478766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145412300	chr3:83478781-83478782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542353997	chr3:83478785-83478786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185058420	chr3:83478838-83478839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147698991	chr3:83478847-83478848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561908984	chr3:83478860-83478861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545097213	chr3:83478863-83478864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564740083	chr3:83478909-83478910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140666534	chr3:83478919-83478920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142278271	chr3:83478950-83478951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376699110	chr3:83478979-83478980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188207768	chr3:83478994-83478995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529438760	chr3:83479004-83479005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76779330	chr3:83479024-83479025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78340064	chr3:83479069-83479070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370155100	chr3:83479100-83479101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140603661	chr3:83479112-83479113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374342098	chr3:83479164-83479165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191283255	chr3:83479200-83479201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551285243	chr3:83479211-83479212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571167593	chr3:83479269-83479270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74866444	chr3:83479330-83479331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553979755	chr3:83479346-83479347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567327294	chr3:83479357-83479358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536378312	chr3:83479374-83479375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555949415	chr3:83479388-83479389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576127771	chr3:83479393-83479394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538589836	chr3:83479427-83479428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377417326	chr3:83479444-83479445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560166503	chr3:83479552-83479553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527453003	chr3:83479677-83479678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558500232	chr3:83479714-83479715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527791302	chr3:83479737-83479738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184504577	chr3:83479744-83479745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35161526	chr3:83479755-83479756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370132422	chr3:83479800-83479801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540928560	chr3:83479801-83479802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189375752	chr3:83479802-83479803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370094068	chr3:83479879-83479880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574136740	chr3:83479888-83479889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181585356	chr3:83479915-83479916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562814324	chr3:83479916-83479917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531605826	chr3:83479942-83479943	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83473600-83479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:83479800-83480000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:83480000-83484600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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