Variant report

Variant	esv3354407
Chromosome Location	chr6:145625484-145628032
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	chr6:145626405..145629142-chr6:145641079..145643554,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569904019	chr6:145625528-145625529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184891371	chr6:145625546-145625547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551129091	chr6:145625549-145625550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559825086	chr6:145625550-145625551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527339365	chr6:145625575-145625576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548667449	chr6:145625602-145625603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73562162	chr6:145625659-145625660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537429090	chr6:145625726-145625727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541292984	chr6:145625750-145625751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189789659	chr6:145625910-145625911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77257357	chr6:145625931-145625932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80149619	chr6:145625975-145625976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77847305	chr6:145625988-145625989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180946102	chr6:145626030-145626031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573468925	chr6:145626083-145626084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138126296	chr6:145626147-145626148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369903820	chr6:145626163-145626164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9386110	chr6:145626208-145626209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs34506808	chr6:145626240-145626241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574005326	chr6:145626307-145626308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544250922	chr6:145626313-145626314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556437668	chr6:145626323-145626324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577821407	chr6:145626356-145626357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561435311	chr6:145626398-145626399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530350744	chr6:145626417-145626418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7743428	chr6:145626419-145626420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373342550	chr6:145626420-145626421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9399542	chr6:145626421-145626422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559963741	chr6:145626487-145626488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527476310	chr6:145626498-145626499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143950309	chr6:145626503-145626504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71739382	chr6:145626547-145626548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58236794	chr6:145626582-145626583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372839389	chr6:145626616-145626617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189501039	chr6:145626620-145626621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370019052	chr6:145626639-145626640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111966223	chr6:145626642-145626643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60312724	chr6:145626668-145626669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376404566	chr6:145626730-145626731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369011908	chr6:145626740-145626741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529405489	chr6:145626752-145626753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182052149	chr6:145626844-145626845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531350869	chr6:145626945-145626946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549469511	chr6:145626949-145626950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569533591	chr6:145626982-145626983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533713973	chr6:145627007-145627008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116723503	chr6:145627017-145627018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186421452	chr6:145627027-145627028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549500650	chr6:145627074-145627075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148230891	chr6:145627100-145627101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145623800-145625600	Enhancers	Stomach Mucosa	stomach
2	chr6:145624200-145625600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:145624400-145625600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:145625000-145628400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:145625600-145627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:145625600-145628800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:145625800-145626200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:145626200-145630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:145626600-145635200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:145627000-145628400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:145627800-145628600	Enhancers	Cortex derived primary cultured neurospheres	brain

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