Variant report

Variant	esv3384181
Chromosome Location	chr3:191392858-191395056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552082275	chr3:191392872-191392873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371177205	chr3:191392895-191392896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2365535	chr3:191392897-191392898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566790472	chr3:191392898-191392899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536128498	chr3:191392903-191392904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555813197	chr3:191392940-191392941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575404731	chr3:191392958-191392959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57479631	chr3:191392992-191392993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557385419	chr3:191393028-191393029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577316247	chr3:191393029-191393030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539994218	chr3:191393030-191393031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143132811	chr3:191393065-191393066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6791344	chr3:191393073-191393074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147470759	chr3:191393121-191393122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537168863	chr3:191393137-191393138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542883045	chr3:191393149-191393150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562788687	chr3:191393157-191393158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376522554	chr3:191393229-191393230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531496423	chr3:191393263-191393264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185202828	chr3:191393385-191393386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376043616	chr3:191393412-191393413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565121321	chr3:191393434-191393435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57290773	chr3:191393439-191393440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546810376	chr3:191393456-191393457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117936222	chr3:191393475-191393476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138305711	chr3:191393504-191393505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57667341	chr3:191393535-191393536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190051844	chr3:191393553-191393554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71312444	chr3:191393564-191393565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552531903	chr3:191393625-191393626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192744268	chr3:191393635-191393636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184021180	chr3:191393678-191393679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533864180	chr3:191393722-191393723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370695293	chr3:191393743-191393744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573549054	chr3:191393776-191393777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200142780	chr3:191393814-191393815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78652941	chr3:191393880-191393881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62289099	chr3:191393892-191393893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201588671	chr3:191393893-191393894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113767448	chr3:191393896-191393897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564362717	chr3:191393924-191393925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201558859	chr3:191393931-191393932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6781713	chr3:191393938-191393939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560775094	chr3:191393961-191393962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545360261	chr3:191393966-191393967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188407388	chr3:191393968-191393969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531266868	chr3:191393985-191393986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150704270	chr3:191393992-191393993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547043605	chr3:191393996-191393997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556547790	chr3:191393998-191393999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	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
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191390800-191406400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:191392200-191404400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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