Variant report

Variant	esv3474046
Chromosome Location	chr6:62861308-62863289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539286310	chr6:62861403-62861404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74579928	chr6:62861423-62861424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566887663	chr6:62861438-62861439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544517359	chr6:62861439-62861440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562609355	chr6:62861440-62861441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577502294	chr6:62861446-62861447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533251457	chr6:62861489-62861490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546249792	chr6:62861496-62861497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564470627	chr6:62861556-62861557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528604770	chr6:62861558-62861559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138912304	chr6:62861606-62861607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534135556	chr6:62861613-62861614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560662991	chr6:62861618-62861619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148976274	chr6:62861666-62861667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529429660	chr6:62861672-62861673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551138467	chr6:62861697-62861698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143832665	chr6:62861732-62861733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566385456	chr6:62861764-62861765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188996390	chr6:62861767-62861768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73758685	chr6:62861784-62861785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376195082	chr6:62861805-62861806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566092393	chr6:62861852-62861853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181137323	chr6:62861906-62861907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117318114	chr6:62861913-62861914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186692938	chr6:62861923-62861924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190774315	chr6:62861924-62861925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58114783	chr6:62861988-62861989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs578033343	chr6:62861990-62861991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545315020	chr6:62862011-62862012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369392924	chr6:62862053-62862054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564472682	chr6:62862054-62862055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573244810	chr6:62862081-62862082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143025424	chr6:62862088-62862089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144995840	chr6:62862098-62862099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138787035	chr6:62862148-62862149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550940507	chr6:62862241-62862242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58673179	chr6:62862245-62862246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142089470	chr6:62862262-62862263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551613303	chr6:62862295-62862296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9363886	chr6:62862303-62862304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566153162	chr6:62862305-62862306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185994226	chr6:62862307-62862308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190857378	chr6:62862313-62862314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150849029	chr6:62862323-62862324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139165090	chr6:62862345-62862346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149504542	chr6:62862383-62862384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115686051	chr6:62862392-62862393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9360326	chr6:62862393-62862394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554070807	chr6:62862394-62862395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572352647	chr6:62862398-62862399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62845800-62872000	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62859000-62872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:62859400-62862600	Weak transcription	Fetal Intestine Large	intestine
4	chr6:62859400-62867800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:62860000-62871400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:62862600-62863400	Enhancers	Fetal Intestine Large	intestine

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