Variant report

Variant	esv2640398
Chromosome Location	chr6:140952037-140953692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536773903	chr6:140952042-140952043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556735514	chr6:140952068-140952069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575376893	chr6:140952072-140952073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191919482	chr6:140952091-140952092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564241206	chr6:140952100-140952101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75107080	chr6:140952157-140952158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540237907	chr6:140952161-140952162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5880476	chr6:140952255-140952256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397945398	chr6:140952256-140952257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9376529	chr6:140952350-140952351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528991989	chr6:140952364-140952365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550721383	chr6:140952370-140952371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12216415	chr6:140952374-140952375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4130814	chr6:140952426-140952427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183301626	chr6:140952458-140952459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552022500	chr6:140952487-140952488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567054907	chr6:140952496-140952497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556608073	chr6:140952529-140952530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187982655	chr6:140952538-140952539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191147425	chr6:140952553-140952554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183336656	chr6:140952564-140952565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149353682	chr6:140952583-140952584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556417498	chr6:140952609-140952610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550631747	chr6:140952610-140952611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9484418	chr6:140952619-140952620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143686583	chr6:140952620-140952621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536238882	chr6:140952637-140952638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7453216	chr6:140952700-140952701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570187421	chr6:140952731-140952732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186969784	chr6:140952783-140952784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540578614	chr6:140952826-140952827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531411439	chr6:140952856-140952857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192144130	chr6:140952869-140952870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528928861	chr6:140952885-140952886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544286695	chr6:140952889-140952890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375142952	chr6:140952901-140952902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183301149	chr6:140952905-140952906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562465395	chr6:140952920-140952921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550202737	chr6:140953082-140953083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187837098	chr6:140953110-140953111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370057087	chr6:140953171-140953172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201931722	chr6:140953177-140953178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200325989	chr6:140953178-140953179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73565509	chr6:140953238-140953239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193173923	chr6:140953316-140953317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560777440	chr6:140953319-140953320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9389816	chr6:140953328-140953329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184422504	chr6:140953351-140953352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116854211	chr6:140953368-140953369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553603368	chr6:140953373-140953374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140948600-140991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140949000-140957400	Weak transcription	Right Atrium	heart

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