Variant report

Variant	esv3496912
Chromosome Location	chr6:63541042-63598293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3558 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3558 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536193684	chr6:63541110-63541111	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570479898	chr6:63541126-63541127	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534697519	chr6:63541146-63541147	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548058408	chr6:63541149-63541150	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566563326	chr6:63541152-63541153	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533899768	chr6:63541157-63541158	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184850463	chr6:63541178-63541179	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143442251	chr6:63541181-63541182	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375632118	chr6:63541200-63541201	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9343268	chr6:63541210-63541211	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188338304	chr6:63541219-63541220	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575179127	chr6:63541223-63541224	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545641574	chr6:63541226-63541227	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147131784	chr6:63541267-63541268	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577300880	chr6:63541281-63541282	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541486626	chr6:63541298-63541299	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577225192	chr6:63541326-63541327	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559490555	chr6:63541337-63541338	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530074792	chr6:63541342-63541343	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542234020	chr6:63541348-63541349	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78781880	chr6:63541349-63541350	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531205963	chr6:63541350-63541351	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180771035	chr6:63541359-63541360	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373536902	chr6:63541380-63541381	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144285589	chr6:63541410-63541411	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546629061	chr6:63541444-63541445	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567975947	chr6:63541455-63541456	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535123102	chr6:63541464-63541465	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550157989	chr6:63541538-63541539	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568840207	chr6:63541569-63541570	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539333411	chr6:63541621-63541622	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557684476	chr6:63541655-63541656	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4566867	chr6:63541665-63541666	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs144363400	chr6:63541709-63541710	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148772411	chr6:63541717-63541718	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574983185	chr6:63541728-63541729	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542268792	chr6:63541804-63541805	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76358172	chr6:63541806-63541807	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576021578	chr6:63541831-63541832	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546446872	chr6:63541835-63541836	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564530312	chr6:63541873-63541874	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35466764	chr6:63541882-63541883	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546871762	chr6:63541906-63541907	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34903790	chr6:63541907-63541908	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184828976	chr6:63541944-63541945	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55767251	chr6:63541960-63541961	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568480237	chr6:63541962-63541963	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539350332	chr6:63542000-63542001	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4310033	chr6:63542028-63542029	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs566645100	chr6:63542035-63542036	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63541000-63543000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63541400-63542200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:63543000-63544600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63544600-63545800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:63545800-63556600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:63556600-63560400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:63560400-63561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:63561800-63563000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:63563000-63572400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:63571800-63572400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr6:63572400-63572600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:63572600-63579600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:63579600-63582400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:63582400-63589200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:63589200-63591800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:63591800-63596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:63594000-63595200	Enhancers	A549	lung
18	chr6:63595200-63599200	Weak transcription	A549	lung
19	chr6:63596800-63597800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:63597800-63598200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:63598200-63603800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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