Variant report

Variant	esv3474268
Chromosome Location	chr6:133949576-133950635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530504635	chr6:133949591-133949592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574505421	chr6:133949605-133949606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549591167	chr6:133949638-133949639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372669392	chr6:133949648-133949649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188877990	chr6:133949700-133949701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192240125	chr6:133949728-133949729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201879949	chr6:133949737-133949738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553443958	chr6:133949751-133949752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115610580	chr6:133949803-133949804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539048123	chr6:133949804-133949805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73553059	chr6:133949813-133949814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544265818	chr6:133949824-133949825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541742370	chr6:133949860-133949861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561947144	chr6:133949861-133949862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572143985	chr6:133949872-133949873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541553653	chr6:133949907-133949908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564576244	chr6:133949940-133949941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184730442	chr6:133949960-133949961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533438104	chr6:133949963-133949964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550215892	chr6:133949973-133949974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563657997	chr6:133949988-133949989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542902289	chr6:133949990-133949991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74626998	chr6:133950029-133950030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189719937	chr6:133950039-133950040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566305974	chr6:133950054-133950055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180807134	chr6:133950081-133950082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115650061	chr6:133950084-133950085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368306952	chr6:133950135-133950136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143796066	chr6:133950170-133950171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573320531	chr6:133950189-133950190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186140055	chr6:133950223-133950224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189281373	chr6:133950225-133950226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181746013	chr6:133950270-133950271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535787661	chr6:133950273-133950274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555363861	chr6:133950338-133950339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572263137	chr6:133950344-133950345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376814223	chr6:133950380-133950381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541251466	chr6:133950385-133950386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186360321	chr6:133950395-133950396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376389433	chr6:133950409-133950410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190368773	chr6:133950418-133950419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543912666	chr6:133950423-133950424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147273598	chr6:133950426-133950427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563824182	chr6:133950440-133950441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371167686	chr6:133950462-133950463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181859439	chr6:133950473-133950474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559797646	chr6:133950496-133950497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528752633	chr6:133950517-133950518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551571876	chr6:133950544-133950545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571489993	chr6:133950550-133950551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133944400-133951800	Weak transcription	NH-A	brain
2	chr6:133944400-133962000	Weak transcription	Fetal Kidney	kidney
3	chr6:133944600-133952400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:133945200-133952000	Weak transcription	A549	lung
5	chr6:133945200-133952400	Weak transcription	NHDF-Ad	bronchial
6	chr6:133945400-133952400	Weak transcription	Ovary	ovary
7	chr6:133945800-133952000	Weak transcription	Osteobl	bone
8	chr6:133945800-133952400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:133946200-133950800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:133948200-133949600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:133948400-133951600	Weak transcription	Fetal Lung	lung
12	chr6:133948600-133951200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:133949000-133949800	Enhancers	Hela-S3	cervix
14	chr6:133949600-133952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:133949800-133950800	Weak transcription	Hela-S3	cervix

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