Variant report

Variant	esv3430359
Chromosome Location	chr6:78055683-78057681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 99 )

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	rs560367444	chr6:78055690-78055691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145531078	chr6:78055717-78055718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552637136	chr6:78055740-78055741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549755438	chr6:78055796-78055797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193065678	chr6:78055810-78055811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530452482	chr6:78055835-78055836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550623309	chr6:78055837-78055838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567387684	chr6:78055882-78055883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77819963	chr6:78055924-78055925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529516121	chr6:78055927-78055928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546821636	chr6:78055973-78055974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566721932	chr6:78055978-78055979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547990676	chr6:78055980-78055981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538917417	chr6:78056072-78056073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558605154	chr6:78056131-78056132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575562990	chr6:78056182-78056183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537865234	chr6:78056232-78056233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555006642	chr6:78056272-78056273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575587867	chr6:78056292-78056293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574595039	chr6:78056328-78056329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540372399	chr6:78056404-78056405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71546043	chr6:78056406-78056407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71723426	chr6:78056407-78056408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9343605	chr6:78056442-78056443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58048737	chr6:78056443-78056444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560303690	chr6:78056479-78056480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577058423	chr6:78056492-78056493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546455416	chr6:78056511-78056512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563060848	chr6:78056520-78056521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370459963	chr6:78056546-78056547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189054592	chr6:78056557-78056558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370789121	chr6:78056605-78056606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71537196	chr6:78056637-78056638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373855114	chr6:78056639-78056640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9717845	chr6:78056643-78056644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560920142	chr6:78056647-78056648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367740997	chr6:78056667-78056668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372090929	chr6:78056669-78056670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529813452	chr6:78056725-78056726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546750084	chr6:78056743-78056744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566648735	chr6:78056758-78056759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538474781	chr6:78056807-78056808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561564278	chr6:78056911-78056912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200609207	chr6:78056945-78056946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552411765	chr6:78057005-78057006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569066677	chr6:78057010-78057011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527269782	chr6:78057012-78057013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538192383	chr6:78057032-78057033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148844744	chr6:78057043-78057044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574531760	chr6:78057080-78057081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78044200-78078200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:78048400-78071600	Weak transcription	NHEK	skin
3	chr6:78050200-78071800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:78050400-78070000	Weak transcription	Left Ventricle	heart
5	chr6:78050800-78061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:78051600-78056800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:78051600-78062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:78051600-78062800	Weak transcription	Aorta	Aorta
9	chr6:78051600-78063000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:78053400-78071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:78054400-78071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:78054800-78055800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:78055800-78063000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:78056800-78057000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:78057000-78063000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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