Variant report

Variant	esv3390493
Chromosome Location	chr6:114000913-114001477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376316287	chr6:114000973-114000974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71025056	chr6:114000974-114000975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77121969	chr6:114000994-114000995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543582683	chr6:114001001-114001002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191689273	chr6:114001017-114001018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146365539	chr6:114001025-114001026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550232437	chr6:114001049-114001050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527289659	chr6:114001068-114001069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12203627	chr6:114001071-114001072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373310724	chr6:114001072-114001073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12203628	chr6:114001073-114001074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573815761	chr6:114001076-114001077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538251847	chr6:114001096-114001097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115852664	chr6:114001170-114001171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562539818	chr6:114001186-114001187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386408306	chr6:114001201-114001202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397886768	chr6:114001202-114001203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533996653	chr6:114001303-114001304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555272356	chr6:114001304-114001305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564190328	chr6:114001397-114001398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372235865	chr6:114001430-114001431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113994400-114001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:113994400-114001600	Weak transcription	Gastric	stomach
3	chr6:113994800-114001400	Weak transcription	Psoas Muscle	Psoas
4	chr6:113996400-114004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:113997400-114004200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:113997400-114005600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:113999000-114007000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:113999200-114001400	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:113999200-114002800	Weak transcription	Stomach Mucosa	stomach
10	chr6:114000400-114002600	Enhancers	HepG2	liver
11	chr6:114000800-114001600	Weak transcription	Pancreas	Pancrea
12	chr6:114001200-114001400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:114001400-114001600	Enhancers	Psoas Muscle	Psoas
14	chr6:114001400-114001800	Enhancers	Fetal Muscle Leg	muscle

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