Variant report

Variant	esv3444199
Chromosome Location	chr6:62290393-62293941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555413215	chr6:62290490-62290491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185487592	chr6:62290519-62290520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537702378	chr6:62290527-62290528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58238918	chr6:62290535-62290536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9351935	chr6:62290538-62290539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75776636	chr6:62290562-62290563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560269834	chr6:62290565-62290566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9341383	chr6:62290579-62290580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542601121	chr6:62290585-62290586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9359003	chr6:62290609-62290610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532037520	chr6:62290610-62290611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550169821	chr6:62290626-62290627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540183324	chr6:62290629-62290630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564730823	chr6:62290643-62290644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565506742	chr6:62290646-62290647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9359004	chr6:62290651-62290652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547531125	chr6:62290659-62290660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371146610	chr6:62290663-62290664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550713326	chr6:62290677-62290678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74538135	chr6:62290681-62290682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9351937	chr6:62290687-62290688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569922745	chr6:62290702-62290703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538158924	chr6:62290753-62290754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370424239	chr6:62290768-62290769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9360589	chr6:62290820-62290821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577941455	chr6:62290838-62290839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9446738	chr6:62290858-62290859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9360591	chr6:62290882-62290883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572182173	chr6:62290897-62290898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150996907	chr6:62290901-62290902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76550231	chr6:62290904-62290905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116449887	chr6:62290938-62290939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140805963	chr6:62290945-62290946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565232108	chr6:62290961-62290962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149748119	chr6:62290966-62290967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541233826	chr6:62290975-62290976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559473696	chr6:62291029-62291030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530155710	chr6:62291071-62291072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548359206	chr6:62291089-62291090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527243916	chr6:62291095-62291096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570066694	chr6:62291106-62291107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530790621	chr6:62291113-62291114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190564701	chr6:62291142-62291143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372517011	chr6:62291166-62291167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571558903	chr6:62291228-62291229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538897404	chr6:62291234-62291235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554015763	chr6:62291242-62291243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565854199	chr6:62291369-62291370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181556827	chr6:62291404-62291405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570526829	chr6:62291423-62291424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62289400-62294200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:62291000-62291200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:62291200-62292400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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