Variant report

Variant	esv3508049
Chromosome Location	chr6:55492439-55493150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369784693	chr6:55492467-55492468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572473028	chr6:55492472-55492473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532090690	chr6:55492473-55492474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55703457	chr6:55492474-55492475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542736103	chr6:55492476-55492477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56143930	chr6:55492479-55492480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56273857	chr6:55492484-55492485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55872951	chr6:55492493-55492494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541389887	chr6:55492514-55492515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564480946	chr6:55492526-55492527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578101621	chr6:55492537-55492538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543738670	chr6:55492555-55492556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181750137	chr6:55492565-55492566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146632525	chr6:55492586-55492587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185686787	chr6:55492625-55492626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559371054	chr6:55492627-55492628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190493297	chr6:55492636-55492637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62404319	chr6:55492653-55492654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs180952949	chr6:55492677-55492678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533039628	chr6:55492694-55492695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200435403	chr6:55492697-55492698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200087923	chr6:55492698-55492699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570271144	chr6:55492701-55492702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375645114	chr6:55492707-55492708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111330821	chr6:55492708-55492709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376942700	chr6:55492711-55492712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370570989	chr6:55492716-55492717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62404320	chr6:55492717-55492718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62404321	chr6:55492718-55492719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201259968	chr6:55492719-55492720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368594074	chr6:55492720-55492721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367578539	chr6:55492723-55492724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372111772	chr6:55492727-55492728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375140783	chr6:55492729-55492730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62404324	chr6:55492738-55492739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62404325	chr6:55492739-55492740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56082430	chr6:55492740-55492741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62404327	chr6:55492749-55492750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368348438	chr6:55492759-55492760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371965023	chr6:55492760-55492761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62404329	chr6:55492769-55492770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62404330	chr6:55492770-55492771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62404331	chr6:55492771-55492772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548133544	chr6:55492780-55492781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376842577	chr6:55492789-55492790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369906317	chr6:55492800-55492801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372640076	chr6:55492801-55492802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539657413	chr6:55492819-55492820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372357001	chr6:55492836-55492837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572463510	chr6:55492837-55492838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55479400-55504000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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