Variant report

Variant	esv3485960
Chromosome Location	chr6:66259938-66262133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76718709	chr6:66259947-66259948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555210699	chr6:66259982-66259983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188294526	chr6:66259983-66259984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4573062	chr6:66260022-66260023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200424961	chr6:66260040-66260041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201450825	chr6:66260042-66260043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199815058	chr6:66260043-66260044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181158701	chr6:66260129-66260130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556046772	chr6:66260207-66260208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557528859	chr6:66260235-66260236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111703692	chr6:66260841-66260842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373027446	chr6:66260905-66260906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77434748	chr6:66260951-66260952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376237861	chr6:66261597-66261598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371366199	chr6:66261615-66261616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374757032	chr6:66261636-66261637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376963589	chr6:66261656-66261657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370310400	chr6:66261676-66261677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375168710	chr6:66261705-66261706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367912057	chr6:66261854-66261855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368106437	chr6:66261879-66261880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4374811	chr6:66261919-66261920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577807855	chr6:66262018-66262019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201887729	chr6:66262021-66262022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4507566	chr6:66262056-66262057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369455310	chr6:66262063-66262064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540325389	chr6:66262086-66262087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4460199	chr6:66262115-66262116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66257400-66260000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:66258600-66260000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:66258800-66260000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:66259800-66267200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:66260000-66262200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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