Variant report

Variant	esv3376496
Chromosome Location	chr6:131036719-131037046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534099627	chr6:131036729-131036730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80150019	chr6:131036741-131036742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144884505	chr6:131036747-131036748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149040097	chr6:131036748-131036749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113866488	chr6:131036754-131036755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556255776	chr6:131036760-131036761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61224554	chr6:131036766-131036767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34576710	chr6:131036778-131036779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574498963	chr6:131036781-131036782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182455297	chr6:131036807-131036808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572527917	chr6:131036811-131036812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150804211	chr6:131036812-131036813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372499150	chr6:131036813-131036814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573536287	chr6:131036814-131036815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540961982	chr6:131036817-131036818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369997744	chr6:131036843-131036844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527818257	chr6:131036867-131036868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79145817	chr6:131036868-131036869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549139543	chr6:131036894-131036895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186002850	chr6:131036901-131036902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562609152	chr6:131036909-131036910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373124320	chr6:131036913-131036914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530155961	chr6:131036981-131036982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560797250	chr6:131036989-131036990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Brain cancer	19584924	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131030000-131037200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:131033200-131036800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:131034600-131036800	Enhancers	Fetal Stomach	stomach
4	chr6:131034800-131036800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:131035200-131037600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:131035400-131037800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:131035400-131038000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:131035400-131038000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:131036000-131037600	Enhancers	Colon Smooth Muscle	Colon
10	chr6:131036200-131036800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:131036400-131036800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:131036400-131036800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:131036400-131036800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:131036800-131037600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:131036800-131037800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:131036800-131037800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:131036800-131041400	Weak transcription	Fetal Stomach	stomach
18	chr6:131037000-131045200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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