Variant report

Variant	esv3382031
Chromosome Location	chr6:78207797-78208683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183428820	chr6:78207954-78207955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545044581	chr6:78207961-78207962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6940571	chr6:78207975-78207976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370330350	chr6:78208011-78208012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575334545	chr6:78208056-78208057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185689290	chr6:78208104-78208105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561337834	chr6:78208106-78208107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530390228	chr6:78208147-78208148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554799206	chr6:78208224-78208225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369124103	chr6:78208259-78208260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540547576	chr6:78208343-78208344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560873767	chr6:78208378-78208379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528082815	chr6:78208379-78208380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112813052	chr6:78208462-78208463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546252266	chr6:78208487-78208488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140574914	chr6:78208518-78208519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530639208	chr6:78208637-78208638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147085796	chr6:78208662-78208663	Enhancers 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	21990379	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78202600-78209400	Weak transcription	HUVEC	blood vessel
2	chr6:78206800-78208000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:78208000-78209000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:78208600-78209400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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