Variant report

Variant	esv3363161
Chromosome Location	chr6:165344587-165347135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 302 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148435714	chr6:165344603-165344604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575310647	chr6:165344614-165344615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548763527	chr6:165344625-165344626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567360555	chr6:165344644-165344645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369634203	chr6:165344651-165344652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111066655	chr6:165344667-165344668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540864883	chr6:165344677-165344678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549558964	chr6:165344687-165344688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532814718	chr6:165344693-165344694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149977155	chr6:165344696-165344697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200837626	chr6:165344708-165344709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377561583	chr6:165344709-165344710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201825051	chr6:165344712-165344713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61728162	chr6:165344713-165344714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560891450	chr6:165344718-165344719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528362210	chr6:165344721-165344722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571145782	chr6:165344734-165344735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374239231	chr6:165344737-165344738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187557122	chr6:165344750-165344751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540517593	chr6:165344751-165344752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572307654	chr6:165344755-165344756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536652673	chr6:165344758-165344759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142579553	chr6:165344773-165344774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576602004	chr6:165344774-165344775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543967225	chr6:165344776-165344777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150927429	chr6:165344783-165344784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563259824	chr6:165344788-165344789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111066656	chr6:165344790-165344791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190905361	chr6:165344801-165344802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200167975	chr6:165344805-165344806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139484409	chr6:165344806-165344807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532198624	chr6:165344810-165344811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548961365	chr6:165344814-165344815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560765659	chr6:165344817-165344818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531292475	chr6:165344825-165344826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549485185	chr6:165344836-165344837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571072084	chr6:165344837-165344838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527879651	chr6:165344838-165344839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201842570	chr6:165344840-165344841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201097475	chr6:165344845-165344846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550761647	chr6:165344849-165344850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557487978	chr6:165344850-165344851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543475571	chr6:165344852-165344853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538453631	chr6:165344854-165344855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547326394	chr6:165344855-165344856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562793837	chr6:165344875-165344876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565961346	chr6:165344883-165344884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536883414	chr6:165344887-165344888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371402123	chr6:165344904-165344905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530155628	chr6:165344905-165344906	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
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
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
Gastric cancer	17908304	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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165333200-165346200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:165343200-165347400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr6:165346200-165346600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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