Variant report

Variant	esv3403654
Chromosome Location	chr6:62557993-62559141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188871652	chr6:62558031-62558032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565472401	chr6:62558114-62558115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532635415	chr6:62558122-62558123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548053676	chr6:62558147-62558148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546180899	chr6:62558169-62558170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570947292	chr6:62558218-62558219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1192015	chr6:62558235-62558236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs191930910	chr6:62558238-62558239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549016728	chr6:62558281-62558282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556610097	chr6:62558284-62558285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569672697	chr6:62558286-62558287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1192016	chr6:62558318-62558319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185246168	chr6:62558362-62558363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576955285	chr6:62558368-62558369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189675828	chr6:62558376-62558377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200607802	chr6:62558393-62558394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201494039	chr6:62558394-62558395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9445493	chr6:62558396-62558397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181321840	chr6:62558398-62558399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374383692	chr6:62558399-62558400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186053600	chr6:62558414-62558415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188476194	chr6:62558415-62558416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9445494	chr6:62558416-62558417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9445495	chr6:62558424-62558425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186548747	chr6:62558426-62558427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9445496	chr6:62558429-62558430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12665333	chr6:62558435-62558436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9767321	chr6:62558437-62558438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9767520	chr6:62558438-62558439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9445497	chr6:62558445-62558446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10944786	chr6:62558446-62558447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12664970	chr6:62558448-62558449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9445499	chr6:62558451-62558452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9445500	chr6:62558457-62558458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9445501	chr6:62558458-62558459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9767521	chr6:62558466-62558467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186792023	chr6:62558467-62558468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1192017	chr6:62558468-62558469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9767649	chr6:62558479-62558480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148873480	chr6:62558480-62558481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3077999	chr6:62558481-62558482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374196063	chr6:62558482-62558483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565489911	chr6:62558488-62558489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531614718	chr6:62558500-62558501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540198876	chr6:62558568-62558569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534547680	chr6:62558624-62558625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552768866	chr6:62558739-62558740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189840859	chr6:62558744-62558745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543862646	chr6:62558797-62558798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541728588	chr6:62558801-62558802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62521800-62574000	Weak transcription	Primary B cells from cord blood	blood

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