Variant report

Variant	esv1827643
Chromosome Location	chr6:66402855-66408758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142982271	chr6:66402855-66402856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146623990	chr6:66402896-66402897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184107178	chr6:66402903-66402904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576969630	chr6:66402991-66402992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376337908	chr6:66403033-66403034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74667282	chr6:66403054-66403055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528482958	chr6:66403174-66403175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542272707	chr6:66403271-66403272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374174264	chr6:66403296-66403297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200386077	chr6:66403298-66403299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532771897	chr6:66403315-66403316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66464915	chr6:66403317-66403318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73742037	chr6:66403359-66403360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375746980	chr6:66403629-66403630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185293857	chr6:66403658-66403659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565682079	chr6:66403713-66403714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11755666	chr6:66403726-66403727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34483511	chr6:66403767-66403768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9354278	chr6:66408421-66408422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77984032	chr6:66408434-66408435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563653262	chr6:66408435-66408436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147871930	chr6:66408450-66408451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2812774	chr6:66408475-66408476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180820756	chr6:66408597-66408598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559204806	chr6:66408602-66408603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548765890	chr6:66408610-66408611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568693307	chr6:66408642-66408643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577568794	chr6:66408647-66408648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536309103	chr6:66408716-66408717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1873294	chr6:66408758-66408759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Hodgkin''s lymphoma	18641027	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66402200-66403400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:66403600-66403800	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr6:66408400-66408800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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