Variant report

Variant	nsv518937
Chromosome Location	chr6:121681930-121683754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9372655	chr6:121681930-121681931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117086330	chr6:121681935-121681936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9482146	chr6:121681947-121681948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139418942	chr6:121681973-121681974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9482147	chr6:121682046-121682047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145239211	chr6:121682056-121682057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578036178	chr6:121682059-121682060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200171641	chr6:121682061-121682062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113409240	chr6:121682063-121682064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71854325	chr6:121682064-121682065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9490205	chr6:121682065-121682066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539753740	chr6:121682152-121682153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186691009	chr6:121682153-121682154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573169189	chr6:121682171-121682172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559600266	chr6:121682206-121682207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542033508	chr6:121682284-121682285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555254123	chr6:121682298-121682299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376933094	chr6:121682352-121682353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543945760	chr6:121682378-121682379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563744371	chr6:121682385-121682386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532728766	chr6:121682406-121682407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551024241	chr6:121682502-121682503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192318780	chr6:121682545-121682546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77022892	chr6:121682551-121682552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185682880	chr6:121682605-121682606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200183799	chr6:121682610-121682611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6917457	chr6:121682723-121682724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77401711	chr6:121682734-121682735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569320158	chr6:121682772-121682773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190560264	chr6:121682784-121682785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531835241	chr6:121682829-121682830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193083502	chr6:121682848-121682849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6940718	chr6:121682892-121682893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149558525	chr6:121682985-121682986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17083469	chr6:121683030-121683031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs118129203	chr6:121683073-121683074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185246300	chr6:121683077-121683078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188529692	chr6:121683092-121683093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370065076	chr6:121683104-121683105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555556797	chr6:121683139-121683140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78332397	chr6:121683161-121683162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181301658	chr6:121683174-121683175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557473796	chr6:121683202-121683203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17083471	chr6:121683208-121683209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539870426	chr6:121683236-121683237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559702053	chr6:121683271-121683272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140076381	chr6:121683289-121683290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9482148	chr6:121683331-121683332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143742719	chr6:121683339-121683340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185118690	chr6:121683350-121683351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	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	22522925	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121677200-121683400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:121683400-121684000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:121683600-121683800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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