Variant report

Variant	esv3380614
Chromosome Location	chr6:65896031-65899329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74448397	chr6:65896418-65896419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115384938	chr6:65896480-65896481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543211898	chr6:65896539-65896540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367968500	chr6:65896567-65896568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547334092	chr6:65896570-65896571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77587244	chr6:65896591-65896592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188943102	chr6:65896624-65896625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550809824	chr6:65896633-65896634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549860467	chr6:65896638-65896639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570156129	chr6:65896688-65896689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76970568	chr6:65896713-65896714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571223262	chr6:65896733-65896734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181741144	chr6:65896744-65896745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566307356	chr6:65896806-65896807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538641197	chr6:65896812-65896813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186211255	chr6:65896814-65896815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80257832	chr6:65896836-65896837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78787008	chr6:65896848-65896849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371851153	chr6:65896885-65896886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191071854	chr6:65896908-65896909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555849526	chr6:65896924-65896925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575975102	chr6:65896928-65896929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs36007187	chr6:65896936-65896937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180807459	chr6:65896943-65896944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564987783	chr6:65896975-65896976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571949582	chr6:65896996-65896997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540786993	chr6:65897020-65897021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560851733	chr6:65897038-65897039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186083976	chr6:65897049-65897050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76472634	chr6:65897061-65897062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114377423	chr6:65897065-65897066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532517216	chr6:65897111-65897112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191283964	chr6:65897151-65897152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144531023	chr6:65897180-65897181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553610127	chr6:65897200-65897201	Enhancers	n/a	n/a	Overlapped CNVs	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65896400-65897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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