Variant report

Variant	esv3394073
Chromosome Location	chr6:118391659-118392907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113415916	chr6:118391669-118391670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565003903	chr6:118391695-118391696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532378723	chr6:118391791-118391792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549344221	chr6:118391839-118391840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116074387	chr6:118391871-118391872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559435356	chr6:118391901-118391902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529986605	chr6:118391929-118391930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28704766	chr6:118391961-118391962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368079156	chr6:118392008-118392009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371607470	chr6:118392015-118392016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371825271	chr6:118392019-118392020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374995679	chr6:118392023-118392024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36162586	chr6:118392024-118392025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376803187	chr6:118392035-118392036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369166495	chr6:118392039-118392040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372069675	chr6:118392049-118392050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367837772	chr6:118392053-118392054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71707789	chr6:118392066-118392067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377253498	chr6:118392067-118392068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375092160	chr6:118392070-118392071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398066196	chr6:118392074-118392075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369068701	chr6:118392079-118392080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369757974	chr6:118392083-118392084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374593062	chr6:118392118-118392119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373686857	chr6:118392120-118392121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377697683	chr6:118392121-118392122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191186291	chr6:118392139-118392140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139436256	chr6:118392154-118392155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545397468	chr6:118392155-118392156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201317885	chr6:118392159-118392160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12178231	chr6:118392161-118392162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369722203	chr6:118392169-118392170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28518769	chr6:118392175-118392176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369642761	chr6:118392179-118392180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372918807	chr6:118392180-118392181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373999274	chr6:118392188-118392189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143774264	chr6:118392192-118392193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372605199	chr6:118392193-118392194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28566166	chr6:118392195-118392196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370276442	chr6:118392196-118392197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372414879	chr6:118392197-118392198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370627609	chr6:118392198-118392199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186804998	chr6:118392199-118392200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376447006	chr6:118392200-118392201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374747175	chr6:118392201-118392202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28493328	chr6:118392204-118392205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371015273	chr6:118392207-118392208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374239429	chr6:118392211-118392212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375238749	chr6:118392212-118392213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376269460	chr6:118392215-118392216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118377200-118408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:118386600-118409600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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