Variant report

Variant	esv3411199
Chromosome Location	chr6:65184431-65186429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141413599	chr6:65185922-65185923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559099217	chr6:65185952-65185953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577414912	chr6:65185961-65185962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3846796	chr6:65186006-65186007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562174266	chr6:65186145-65186146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147002065	chr6:65186157-65186158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541780913	chr6:65186174-65186175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189241403	chr6:65186244-65186245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530626683	chr6:65186299-65186300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116341884	chr6:65186314-65186315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547624741	chr6:65186316-65186317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374316622	chr6:65186335-65186336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59130430	chr6:65186352-65186353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546606580	chr6:65186373-65186374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567939150	chr6:65186418-65186419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535397893	chr6:65186427-65186428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554752983	chr6:65186428-65186429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Cancer	20164920	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65185800-65187800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:65186000-65186200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:65186200-65187200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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