Variant report

Variant	esv3322559
Chromosome Location	chr6:162198412-162199560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575131488	chr6:162198432-162198433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142818843	chr6:162198444-162198445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181015080	chr6:162198457-162198458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577282866	chr6:162198460-162198461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184884315	chr6:162198464-162198465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190134437	chr6:162198491-162198492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78311099	chr6:162198511-162198512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74941655	chr6:162198522-162198523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77859705	chr6:162198546-162198547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567356318	chr6:162198552-162198553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181136886	chr6:162198619-162198620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201491451	chr6:162198620-162198621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10945776	chr6:162198654-162198655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114570810	chr6:162198669-162198670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552844688	chr6:162198670-162198671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9458368	chr6:162198671-162198672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568399365	chr6:162198691-162198692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368640163	chr6:162198703-162198704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200860075	chr6:162198704-162198705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs68015141	chr6:162198705-162198706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551973027	chr6:162198714-162198715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568877416	chr6:162198715-162198716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202055318	chr6:162198716-162198717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9458370	chr6:162198717-162198718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150217648	chr6:162198727-162198728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200369618	chr6:162198730-162198731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562832465	chr6:162198736-162198737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577863765	chr6:162198737-162198738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186843277	chr6:162198761-162198762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372454199	chr6:162198787-162198788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377015885	chr6:162198789-162198790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199872783	chr6:162198811-162198812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369210694	chr6:162198817-162198818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373517765	chr6:162198819-162198820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200958113	chr6:162198825-162198826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554428401	chr6:162198859-162198860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570941645	chr6:162198861-162198862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539997019	chr6:162198870-162198871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192003032	chr6:162198875-162198876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539962423	chr6:162198908-162198909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149505909	chr6:162198914-162198915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576434123	chr6:162198915-162198916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183375761	chr6:162198918-162198919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368107606	chr6:162198922-162198923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555305321	chr6:162198924-162198925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144173156	chr6:162198925-162198926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113551390	chr6:162198932-162198933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202007278	chr6:162198936-162198937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199555827	chr6:162198937-162198938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200903411	chr6:162198938-162198939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Gastric cancer	17908304	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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162191600-162209200	Weak transcription	Aorta	Aorta
2	chr6:162195800-162212800	Weak transcription	Left Ventricle	heart

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