Variant report

Variant	nsv515656
Chromosome Location	chr6:121748542-121750153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11154022	chr6:121748542-121748543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs202192982	chr6:121748565-121748566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534233439	chr6:121748583-121748584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116039468	chr6:121748638-121748639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145952289	chr6:121748664-121748665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74963567	chr6:121748681-121748682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138590605	chr6:121748697-121748698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141589354	chr6:121748706-121748707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144500919	chr6:121748756-121748757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376687513	chr6:121748774-121748775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371106942	chr6:121748781-121748782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565178053	chr6:121748784-121748785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368011357	chr6:121748798-121748799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370262909	chr6:121748834-121748835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373614636	chr6:121748840-121748841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111385076	chr6:121748843-121748844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148551476	chr6:121748888-121748889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540161662	chr6:121748907-121748908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564537253	chr6:121748913-121748914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544128121	chr6:121748919-121748920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560451969	chr6:121748932-121748933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372638918	chr6:121748953-121748954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199809525	chr6:121748954-121748955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547169002	chr6:121749018-121749019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562596709	chr6:121749035-121749036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182062358	chr6:121749054-121749055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577625938	chr6:121749066-121749067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55839853	chr6:121749068-121749069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111552291	chr6:121749073-121749074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116738778	chr6:121749079-121749080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551415211	chr6:121749097-121749098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571158396	chr6:121749168-121749169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545090519	chr6:121749271-121749272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533752484	chr6:121749305-121749306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559693042	chr6:121749317-121749318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547791040	chr6:121749338-121749339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567162133	chr6:121749340-121749341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567653458	chr6:121749398-121749399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527306570	chr6:121749439-121749440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113347436	chr6:121749454-121749455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374470310	chr6:121749480-121749481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368470529	chr6:121749484-121749485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556387843	chr6:121749489-121749490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187910689	chr6:121749645-121749646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190948766	chr6:121749652-121749653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548113954	chr6:121749657-121749658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558965931	chr6:121749666-121749667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184041373	chr6:121749667-121749668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572372734	chr6:121749706-121749707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188894222	chr6:121749736-121749737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121748400-121751600	Weak transcription	A549	lung
2	chr6:121750000-121750200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:121750000-121750200	Enhancers	Fetal Lung	lung

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