Variant report

Variant	esv3393709
Chromosome Location	chr3:180202886-180205051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111837274	chr3:180202930-180202931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147912972	chr3:180202941-180202942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555382486	chr3:180202977-180202978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557351569	chr3:180202989-180202990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111390814	chr3:180203011-180203012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534611653	chr3:180203024-180203025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558012882	chr3:180203040-180203041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112754976	chr3:180203062-180203063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577896723	chr3:180203071-180203072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112948667	chr3:180203072-180203073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537161294	chr3:180203086-180203087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557067338	chr3:180203128-180203129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573684627	chr3:180203228-180203229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573767118	chr3:180203392-180203393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542570270	chr3:180203432-180203433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201452412	chr3:180203509-180203510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112949924	chr3:180203510-180203511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536360666	chr3:180203553-180203554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559081382	chr3:180203576-180203577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112589839	chr3:180203596-180203597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572725095	chr3:180203617-180203618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202128632	chr3:180203618-180203619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148947390	chr3:180203626-180203627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371337781	chr3:180203639-180203640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564352648	chr3:180203680-180203681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533320984	chr3:180203684-180203685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549865999	chr3:180203721-180203722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563399945	chr3:180203753-180203754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143657380	chr3:180203754-180203755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549405350	chr3:180203770-180203771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9756203	chr3:180203813-180203814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534952160	chr3:180203816-180203817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9756204	chr3:180203817-180203818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571491568	chr3:180203840-180203841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9757646	chr3:180203845-180203846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187071933	chr3:180203859-180203860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191453429	chr3:180203863-180203864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549924706	chr3:180203923-180203924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553109119	chr3:180203944-180203945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535942116	chr3:180203945-180203946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183623287	chr3:180203955-180203956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376176392	chr3:180203965-180203966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112662223	chr3:180203966-180203967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541731138	chr3:180204049-180204050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9758812	chr3:180204191-180204192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190537958	chr3:180204195-180204196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543648314	chr3:180204233-180204234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563537905	chr3:180204251-180204252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529418079	chr3:180204252-180204253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565428701	chr3:180204264-180204265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180187400-180205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:180200000-180208400	Weak transcription	HMEC	breast
3	chr3:180201800-180208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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