Variant report

Variant	esv3381965
Chromosome Location	chr6:65603123-65603638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555588289	chr6:65603140-65603141	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553232656	chr6:65603151-65603152	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs6455013	chr6:65603162-65603163	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34772556	chr6:65603180-65603181	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562027718	chr6:65603232-65603233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6455014	chr6:65603238-65603239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370693828	chr6:65603274-65603275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143029286	chr6:65603281-65603282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533276336	chr6:65603318-65603319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571911630	chr6:65603348-65603349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558530505	chr6:65603355-65603356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148156374	chr6:65603411-65603412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188010729	chr6:65603415-65603416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148241083	chr6:65603441-65603442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558037457	chr6:65603453-65603454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569580433	chr6:65603464-65603465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530416458	chr6:65603495-65603496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560058117	chr6:65603539-65603540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570540728	chr6:65603558-65603559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35007369	chr6:65603595-65603596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539514800	chr6:65603619-65603620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201163794	chr6:65603628-65603629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7753751	chr6:65603637-65603638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65600200-65603800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:65600600-65604200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:65602200-65603800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:65602600-65603200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:65602600-65603400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:65602800-65603200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:65602800-65603400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:65603000-65603200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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