Variant report

Variant	esv1842389
Chromosome Location	chr6:77419782-77453089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:77420178..77422936-chr6:77426529..77430097,4	MCF-7	breast:
2	chr6:77420178..77422936-chr6:77426529..77430097,4	MCF-7	breast:

Extended variants
information (count: 1006 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555692426	chr6:77425604-77425605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573635082	chr6:77425625-77425626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71544096	chr6:77425719-77425720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552854808	chr6:77425742-77425743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577380086	chr6:77425744-77425745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10498908	chr6:77425745-77425746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556764116	chr6:77425748-77425749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575232035	chr6:77425805-77425806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577117429	chr6:77425842-77425843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542746554	chr6:77425885-77425886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115677454	chr6:77425896-77425897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565244919	chr6:77425903-77425904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541321666	chr6:77426212-77426213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560105467	chr6:77426224-77426225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140818822	chr6:77426246-77426247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150133237	chr6:77426304-77426305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190579203	chr6:77426310-77426311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112488856	chr6:77426324-77426325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147907552	chr6:77426375-77426376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567504033	chr6:77426381-77426382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544898181	chr6:77426387-77426388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552817918	chr6:77426399-77426400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563282042	chr6:77426411-77426412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575456543	chr6:77426420-77426421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538578219	chr6:77426424-77426425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556727344	chr6:77426429-77426430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181733002	chr6:77426430-77426431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12528488	chr6:77426481-77426482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186432221	chr6:77426512-77426513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572716556	chr6:77426560-77426561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540254975	chr6:77426568-77426569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564903705	chr6:77426574-77426575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141608820	chr6:77426575-77426576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545758712	chr6:77426599-77426600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191801959	chr6:77426600-77426601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531141396	chr6:77426611-77426612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560944260	chr6:77426631-77426632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115737898	chr6:77426632-77426633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184099249	chr6:77426634-77426635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528603313	chr6:77426675-77426676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546572225	chr6:77426693-77426694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377373705	chr6:77426713-77426714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538541562	chr6:77426791-77426792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547947953	chr6:77426836-77426837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115613400	chr6:77426865-77426866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568918190	chr6:77426899-77426900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536461703	chr6:77426958-77426959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112735935	chr6:77426982-77426983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138291449	chr6:77426995-77426996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572873779	chr6:77426997-77426998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77425600-77433000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:77434400-77434600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:77436200-77437000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:77439200-77441000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr6:77441000-77452800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:77443200-77443600	Active TSS	Aorta	Aorta
7	chr6:77452400-77470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:77452800-77454400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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