Variant report

Variant	esv2763583
Chromosome Location	chr6:78355600-78356239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7752338	chr6:78355600-78355601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559373424	chr6:78355601-78355602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115322189	chr6:78355677-78355678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532181199	chr6:78355750-78355751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143844255	chr6:78355764-78355765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564763810	chr6:78355794-78355795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148167802	chr6:78355809-78355810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550499578	chr6:78355850-78355851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10943475	chr6:78355865-78355866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs75362983	chr6:78355880-78355881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193174952	chr6:78355901-78355902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566920886	chr6:78355997-78355998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539164424	chr6:78356010-78356011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12662855	chr6:78356011-78356012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9361257	chr6:78356035-78356036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145117009	chr6:78356080-78356081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6920301	chr6:78356107-78356108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12662839	chr6:78356108-78356109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376178085	chr6:78356126-78356127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76651490	chr6:78356146-78356147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185031758	chr6:78356198-78356199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552731114	chr6:78356223-78356224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11757942	chr6:78356239-78356240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:100)

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	21990379	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78354400-78355600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:78354400-78355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:78355000-78362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:78355400-78356000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:78355600-78356000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:78355600-78356200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr6:78355800-78356200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:78356000-78359400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:78356000-78359600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:78356200-78359200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:78356200-78359800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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