Variant report

Variant	esv13378
Chromosome Location	chr6:63219158-63225196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs146590311	chr6:63220215-63220216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563615827	chr6:63220262-63220263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376357810	chr6:63220298-63220299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575576704	chr6:63220300-63220301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546069117	chr6:63220307-63220308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530866786	chr6:63220314-63220315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564708760	chr6:63220351-63220352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188648847	chr6:63220391-63220392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544497654	chr6:63220608-63220609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551241234	chr6:63220620-63220621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189061340	chr6:63220668-63220669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139750884	chr6:63220787-63220788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553414989	chr6:63220864-63220865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568241845	chr6:63220902-63220903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4710355	chr6:63220914-63220915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34901541	chr6:63221090-63221091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4710231	chr6:63221113-63221114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191917063	chr6:63221139-63221140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113984991	chr6:63221148-63221149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560194206	chr6:63221179-63221180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189568918	chr6:63221192-63221193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180757193	chr6:63221207-63221208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149728142	chr6:63221233-63221234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540500459	chr6:63221248-63221249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145573192	chr6:63221262-63221263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529041100	chr6:63221345-63221346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546651815	chr6:63221417-63221418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12206616	chr6:63221430-63221431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562471349	chr6:63221461-63221462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533050700	chr6:63221478-63221479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76116017	chr6:63221555-63221556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199616699	chr6:63221564-63221565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150570294	chr6:63221565-63221566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73494761	chr6:63221584-63221585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187460699	chr6:63221639-63221640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190215746	chr6:63221644-63221645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148868990	chr6:63221669-63221670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568203575	chr6:63221703-63221704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145297857	chr6:63221711-63221712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147631002	chr6:63221716-63221717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142001666	chr6:63221728-63221729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116392739	chr6:63221843-63221844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201041706	chr6:63221885-63221886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78927897	chr6:63221886-63221887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141151447	chr6:63221887-63221888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs66476155	chr6:63221888-63221889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9351875	chr6:63221921-63221922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9341355	chr6:63221945-63221946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375871582	chr6:63221958-63221959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74749349	chr6:63222012-63222013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63220200-63220400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:63220600-63225000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:63222800-63223200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:63223200-63224400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:63224400-63224800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:63224600-63224800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:63224600-63225000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:63224600-63226400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:63224800-63225800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:63224800-63225800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:63225000-63225400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:63225000-63226000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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