Variant report

Variant	esv3328759
Chromosome Location	chr6:86682093-86685399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190974016	chr6:86682098-86682099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140187253	chr6:86682113-86682114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183706465	chr6:86682123-86682124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116403533	chr6:86682124-86682125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565287922	chr6:86682153-86682154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532863893	chr6:86682185-86682186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548074417	chr6:86682221-86682222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555962935	chr6:86682238-86682239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566099736	chr6:86682246-86682247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56246009	chr6:86682308-86682309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189146876	chr6:86682340-86682341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192151519	chr6:86682352-86682353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142213083	chr6:86682361-86682362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369018305	chr6:86682429-86682430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183007497	chr6:86682434-86682435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556333522	chr6:86682435-86682436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146371586	chr6:86682502-86682503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538570035	chr6:86682514-86682515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553681553	chr6:86682560-86682561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571996443	chr6:86682583-86682584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575910935	chr6:86682663-86682664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374289607	chr6:86682679-86682680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534219777	chr6:86682688-86682689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541758967	chr6:86682700-86682701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554261469	chr6:86682734-86682735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576088538	chr6:86682747-86682748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543108525	chr6:86682778-86682779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565488584	chr6:86682811-86682812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187962998	chr6:86682834-86682835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191795692	chr6:86682858-86682859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139374165	chr6:86682904-86682905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561739408	chr6:86682916-86682917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530414851	chr6:86682926-86682927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80073810	chr6:86682927-86682928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572453286	chr6:86682934-86682935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs36011450	chr6:86682966-86682967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531051936	chr6:86682976-86682977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184279735	chr6:86682996-86682997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570592629	chr6:86683022-86683023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10944169	chr6:86683036-86683037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs553544321	chr6:86683123-86683124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376399131	chr6:86683145-86683146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564560666	chr6:86683146-86683147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539970324	chr6:86683173-86683174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78644215	chr6:86683204-86683205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117754107	chr6:86683271-86683272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550367109	chr6:86683282-86683283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554556707	chr6:86683331-86683332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145285839	chr6:86683340-86683341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34884820	chr6:86683343-86683344	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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	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
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86677800-86682800	Enhancers	Ovary	ovary
2	chr6:86682800-86683400	Weak transcription	Ovary	ovary
3	chr6:86683400-86683600	Enhancers	Ovary	ovary
4	chr6:86685200-86686200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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