Variant report

Variant	esv3380345
Chromosome Location	chr6:118433108-118433511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575593483	chr6:118433144-118433145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545721558	chr6:118433150-118433151	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146720817	chr6:118433163-118433164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs548968033	chr6:118433205-118433206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373577199	chr6:118433215-118433216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199659451	chr6:118433225-118433226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57011505	chr6:118433228-118433229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386705147	chr6:118433229-118433230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199936277	chr6:118433232-118433233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2501516	chr6:118433233-118433234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71012380	chr6:118433234-118433235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140625407	chr6:118433235-118433236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201098099	chr6:118433240-118433241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528989425	chr6:118433243-118433244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371902104	chr6:118433246-118433247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550642044	chr6:118433249-118433250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562390158	chr6:118433274-118433275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200582010	chr6:118433289-118433290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75079965	chr6:118433309-118433310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567941270	chr6:118433315-118433316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367719921	chr6:118433350-118433351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570854418	chr6:118433382-118433383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552938192	chr6:118433404-118433405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2991964	chr6:118433437-118433438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149140991	chr6:118433441-118433442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186273155	chr6:118433473-118433474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547216089	chr6:118433489-118433490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568596997	chr6:118433490-118433491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Cancer	20164920	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	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118428000-118436200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:118432600-118433200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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