Variant report

Variant	esv3344825
Chromosome Location	chr6:75268932-75270880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60709091	chr6:75269006-75269007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542435819	chr6:75269021-75269022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568424472	chr6:75269041-75269042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146014407	chr6:75269060-75269061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554114242	chr6:75269094-75269095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572653163	chr6:75269097-75269098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548519680	chr6:75269099-75269100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540168314	chr6:75269139-75269140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180862670	chr6:75269179-75269180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562255777	chr6:75269200-75269201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370683335	chr6:75269236-75269237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543004294	chr6:75269276-75269277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561109376	chr6:75269303-75269304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201612397	chr6:75269314-75269315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573701779	chr6:75269327-75269328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541100830	chr6:75269342-75269343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186099967	chr6:75269343-75269344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559158486	chr6:75269350-75269351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118100416	chr6:75269373-75269374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62438564	chr6:75269385-75269386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563199108	chr6:75269495-75269496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566081214	chr6:75269497-75269498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531608290	chr6:75269585-75269586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71948045	chr6:75269650-75269651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34868608	chr6:75269663-75269664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199892293	chr6:75269664-75269665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202244122	chr6:75269665-75269666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9352140	chr6:75269667-75269668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201185945	chr6:75269669-75269670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200839624	chr6:75269672-75269673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9343198	chr6:75269681-75269682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9360818	chr6:75269687-75269688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9350565	chr6:75269689-75269690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201967754	chr6:75269699-75269700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547851831	chr6:75269710-75269711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9343199	chr6:75269712-75269713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189763126	chr6:75269714-75269715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9360819	chr6:75269717-75269718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9359102	chr6:75269719-75269720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578054024	chr6:75269725-75269726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9350566	chr6:75269732-75269733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540009829	chr6:75269735-75269736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112468629	chr6:75269737-75269738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1761639	chr6:75269738-75269739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13208425	chr6:75269750-75269751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367995380	chr6:75269751-75269752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71002704	chr6:75269773-75269774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558492445	chr6:75269785-75269786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569517318	chr6:75269803-75269804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570033251	chr6:75269815-75269816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75258600-75283400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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