Variant report

Variant	esv2553915
Chromosome Location	chr6:141445261-141446766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1488530	chr6:141445279-141445280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537100623	chr6:141445287-141445288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374991877	chr6:141445305-141445306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545720287	chr6:141445308-141445309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1488531	chr6:141445342-141445343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186774653	chr6:141445360-141445361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373571497	chr6:141445361-141445362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542646779	chr6:141445378-141445379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549883589	chr6:141445435-141445436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561377049	chr6:141445448-141445449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78331538	chr6:141445459-141445460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550817100	chr6:141445506-141445507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371255544	chr6:141445507-141445508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550324318	chr6:141445523-141445524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551700558	chr6:141445524-141445525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114636383	chr6:141445536-141445537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533789911	chr6:141445556-141445557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191669331	chr6:141445561-141445562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183542279	chr6:141445567-141445568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3011891	chr6:141445590-141445591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187880948	chr6:141445632-141445633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113681183	chr6:141445639-141445640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565939697	chr6:141445645-141445646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538857136	chr6:141445711-141445712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368842168	chr6:141445751-141445752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554491035	chr6:141445807-141445808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534956530	chr6:141445825-141445826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370462303	chr6:141445836-141445837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572610362	chr6:141445874-141445875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9495903	chr6:141445940-141445941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554975216	chr6:141446002-141446003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576488405	chr6:141446025-141446026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543960838	chr6:141446033-141446034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149849697	chr6:141446051-141446052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554798823	chr6:141446071-141446072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145891145	chr6:141446095-141446096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148917442	chr6:141446102-141446103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560395898	chr6:141446122-141446123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189960731	chr6:141446146-141446147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548582024	chr6:141446208-141446209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182234413	chr6:141446224-141446225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187736160	chr6:141446241-141446242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531188078	chr6:141446286-141446287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192744182	chr6:141446406-141446407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184685909	chr6:141446432-141446433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116665731	chr6:141446451-141446452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113556877	chr6:141446462-141446463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77303793	chr6:141446522-141446523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566385813	chr6:141446539-141446540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537131308	chr6:141446553-141446554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141444600-141447400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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