Variant report

Variant	esv3343223
Chromosome Location	chr6:128481790-128484473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76928661	chr6:128481847-128481848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559983551	chr6:128481953-128481954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368421952	chr6:128482026-128482027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569211038	chr6:128482079-128482080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539762088	chr6:128482084-128482085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9491916	chr6:128482085-128482086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557957273	chr6:128482119-128482120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563765385	chr6:128482126-128482127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56343997	chr6:128482144-128482145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570987390	chr6:128482204-128482205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144145621	chr6:128482278-128482279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370586396	chr6:128482294-128482295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548917584	chr6:128482309-128482310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147322507	chr6:128482352-128482353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569150592	chr6:128482353-128482354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529149707	chr6:128482435-128482436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538274506	chr6:128482458-128482459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541125995	chr6:128482459-128482460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114201440	chr6:128482460-128482461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566370000	chr6:128482469-128482470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539588236	chr6:128482490-128482491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548164335	chr6:128482491-128482492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568315156	chr6:128482527-128482528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538530571	chr6:128482546-128482547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553472483	chr6:128482563-128482564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536758279	chr6:128482564-128482565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112381172	chr6:128482572-128482573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574738330	chr6:128482585-128482586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558453429	chr6:128482614-128482615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573725526	chr6:128482615-128482616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376481526	chr6:128482628-128482629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541723441	chr6:128482638-128482639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553736076	chr6:128482646-128482647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542236756	chr6:128482685-128482686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370394480	chr6:128482736-128482737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575186697	chr6:128482740-128482741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578197186	chr6:128482752-128482753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545552758	chr6:128482785-128482786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563732906	chr6:128482830-128482831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192211971	chr6:128482885-128482886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560927196	chr6:128482906-128482907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528504587	chr6:128482936-128482937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148772269	chr6:128482951-128482952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565937108	chr6:128483004-128483005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533080597	chr6:128483031-128483032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372053832	chr6:128483043-128483044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142378075	chr6:128483138-128483139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531074257	chr6:128483157-128483158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537413831	chr6:128483203-128483204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184486614	chr6:128483291-128483292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128452600-128505200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:128456800-128488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:128461400-128488600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:128461400-128488600	Weak transcription	NHEK	skin
5	chr6:128461400-128504400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:128465600-128504400	Weak transcription	Fetal Thymus	thymus
7	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
8	chr6:128466200-128494000	Weak transcription	Fetal Heart	heart
9	chr6:128469400-128496200	Weak transcription	HepG2	liver
10	chr6:128472400-128494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:128473600-128489200	Weak transcription	HMEC	breast
12	chr6:128477800-128504200	Weak transcription	HSMM	muscle
13	chr6:128479800-128488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:128480200-128494000	Weak transcription	NH-A	brain
15	chr6:128481000-128489200	Weak transcription	HUVEC	blood vessel
16	chr6:128481200-128489200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:128482800-128483400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:128483000-128483600	Enhancers	HUES6 Cell Line	embryonic stem cell

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