Variant report

Variant	esv13480
Chromosome Location	chr6:165406753-165416511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372930661	chr6:165408207-165408208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58629242	chr6:165408215-165408216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554360110	chr6:165408216-165408217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369237409	chr6:165408224-165408225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397948334	chr6:165408225-165408226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562978439	chr6:165408296-165408297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530499345	chr6:165408309-165408310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551894273	chr6:165408320-165408321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564266951	chr6:165408339-165408340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9356333	chr6:165408361-165408362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377644215	chr6:165408420-165408421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9355527	chr6:165408453-165408454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373660321	chr6:165408463-165408464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568281634	chr6:165408472-165408473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78163629	chr6:165408481-165408482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550974612	chr6:165408488-165408489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569323379	chr6:165408525-165408526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539929000	chr6:165408565-165408566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557976362	chr6:165408588-165408589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116009767	chr6:165408594-165408595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7453732	chr6:165408604-165408605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555990849	chr6:165408612-165408613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74744037	chr6:165408640-165408641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9365853	chr6:165408653-165408654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562941467	chr6:165408686-165408687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9365854	chr6:165408714-165408715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545446353	chr6:165408725-165408726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371095727	chr6:165408741-165408742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528256696	chr6:165408753-165408754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546464828	chr6:165408762-165408763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148478324	chr6:165408774-165408775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529202629	chr6:165408795-165408796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145320121	chr6:165408818-165408819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569231978	chr6:165408859-165408860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530284667	chr6:165408900-165408901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539844119	chr6:165408912-165408913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551821874	chr6:165408926-165408927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531527910	chr6:165408938-165408939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77187558	chr6:165408960-165408961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534336060	chr6:165408977-165408978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114709195	chr6:165409007-165409008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386708320	chr6:165409055-165409056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4709916	chr6:165409057-165409058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556442353	chr6:165409081-165409082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542466711	chr6:165409161-165409162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374887000	chr6:165409176-165409177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545411679	chr6:165409226-165409227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147613288	chr6:165409247-165409248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142169209	chr6:165409253-165409254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540373171	chr6:165409265-165409266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165408200-165408400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:165408400-165410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:165410200-165410600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:165410400-165411000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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