Variant report

Variant	esv3433896
Chromosome Location	chr6:65940231-65942129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2788907	chr6:65940233-65940234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9445486	chr6:65940241-65940242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566283501	chr6:65940250-65940251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34230737	chr6:65940269-65940270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2639695	chr6:65940286-65940287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188670710	chr6:65940294-65940295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2639696	chr6:65940321-65940322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11963375	chr6:65940325-65940326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554389719	chr6:65940342-65940343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73741277	chr6:65940356-65940357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142002742	chr6:65940369-65940370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116654502	chr6:65940393-65940394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193018952	chr6:65940406-65940407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572153434	chr6:65940414-65940415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541266046	chr6:65940439-65940440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11966455	chr6:65940444-65940445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184872924	chr6:65940493-65940494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs593403	chr6:65940494-65940495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115819440	chr6:65940497-65940498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188071234	chr6:65940505-65940506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150700729	chr6:65940530-65940531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191333223	chr6:65940558-65940559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565637694	chr6:65940610-65940611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs604291	chr6:65940615-65940616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139869876	chr6:65940639-65940640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531122471	chr6:65940660-65940661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144778874	chr6:65940668-65940669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147510630	chr6:65940683-65940684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374475159	chr6:65940693-65940694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558512933	chr6:65940752-65940753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9445487	chr6:65940838-65940839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183911763	chr6:65940844-65940845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188531326	chr6:65940908-65940909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554811046	chr6:65940914-65940915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559034454	chr6:65940921-65940922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201704316	chr6:65940944-65940945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368789700	chr6:65940945-65940946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200311682	chr6:65940963-65940964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201199099	chr6:65940974-65940975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9351488	chr6:65940975-65940976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200536718	chr6:65940976-65940977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201026697	chr6:65940978-65940979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543721951	chr6:65941005-65941006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557000886	chr6:65941006-65941007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577051186	chr6:65941008-65941009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67770140	chr6:65941033-65941034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544913322	chr6:65941034-65941035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545919162	chr6:65941052-65941053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373786417	chr6:65941066-65941067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559318307	chr6:65941118-65941119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65939000-65940400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:65939200-65940400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:65939200-65940400	Enhancers	HUVEC	blood vessel
4	chr6:65940400-65941800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:65941600-65941800	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr6:65941800-65942200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links