Variant report

Variant	esv3351841
Chromosome Location	chr3:90217712-90219860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139886859	chr3:90217720-90217721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540209302	chr3:90217736-90217737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186645449	chr3:90217780-90217781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577231212	chr3:90217805-90217806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546000988	chr3:90217819-90217820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563051742	chr3:90217840-90217841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531820962	chr3:90217848-90217849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529758309	chr3:90217856-90217857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548840213	chr3:90217889-90217890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562365960	chr3:90217922-90217923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548170906	chr3:90217947-90217948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528026571	chr3:90217948-90217949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73846034	chr3:90217949-90217950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566368289	chr3:90217956-90217957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532187478	chr3:90217961-90217962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551997578	chr3:90217969-90217970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552428126	chr3:90217982-90217983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568976362	chr3:90217990-90217991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537650080	chr3:90217993-90217994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554374078	chr3:90218002-90218003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567996671	chr3:90218011-90218012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533846991	chr3:90218025-90218026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116986258	chr3:90218048-90218049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577170272	chr3:90218065-90218066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370050985	chr3:90218070-90218071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116830253	chr3:90218073-90218074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576656006	chr3:90218103-90218104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542419733	chr3:90218114-90218115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146107643	chr3:90218126-90218127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548531100	chr3:90218136-90218137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148775860	chr3:90218164-90218165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552365080	chr3:90218179-90218180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568366115	chr3:90218229-90218230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541364771	chr3:90218255-90218256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191766340	chr3:90218261-90218262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532004226	chr3:90218279-90218280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183166736	chr3:90218297-90218298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142438132	chr3:90218321-90218322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531336385	chr3:90218338-90218339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547944706	chr3:90218349-90218350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188239425	chr3:90218376-90218377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372539168	chr3:90218378-90218379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533787681	chr3:90218389-90218390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553791370	chr3:90218405-90218406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570590173	chr3:90218410-90218411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539446023	chr3:90218417-90218418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556548055	chr3:90218442-90218443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150913387	chr3:90218445-90218446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191284816	chr3:90218454-90218455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555951173	chr3:90218459-90218460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90215000-90225400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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