Variant report

Variant	esv3370406
Chromosome Location	chr6:142956309-142958257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572982867	chr6:142956337-142956338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540099774	chr6:142956383-142956384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561921122	chr6:142956401-142956402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6917687	chr6:142956457-142956458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571257829	chr6:142956475-142956476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368464790	chr6:142956477-142956478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533777587	chr6:142956531-142956532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550906941	chr6:142956533-142956534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141723913	chr6:142956541-142956542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146010129	chr6:142956547-142956548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191685187	chr6:142956571-142956572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6921853	chr6:142956596-142956597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113775829	chr6:142956614-142956615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546839010	chr6:142956615-142956616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568332499	chr6:142956652-142956653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535719708	chr6:142956670-142956671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183476006	chr6:142956686-142956687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574878288	chr6:142956698-142956699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35670034	chr6:142956710-142956711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557829629	chr6:142956714-142956715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570386265	chr6:142956737-142956738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572802759	chr6:142956740-142956741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376387083	chr6:142956768-142956769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540330312	chr6:142956811-142956812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188106129	chr6:142956838-142956839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561694868	chr6:142956863-142956864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138754189	chr6:142956890-142956891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556410221	chr6:142956987-142956988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544505658	chr6:142957008-142957009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562813544	chr6:142957009-142957010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200404820	chr6:142957015-142957016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148349350	chr6:142957016-142957017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368293115	chr6:142957018-142957019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181015578	chr6:142957051-142957052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141542277	chr6:142957066-142957067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539325935	chr6:142957125-142957126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564515913	chr6:142957146-142957147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376426764	chr6:142957150-142957151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs264042	chr6:142957168-142957169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190518863	chr6:142957190-142957191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112243569	chr6:142957227-142957228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146274581	chr6:142957245-142957246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556358099	chr6:142957282-142957283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576148791	chr6:142957283-142957284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11155254	chr6:142957287-142957288	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181664288	chr6:142957300-142957301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138995587	chr6:142957306-142957307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557425514	chr6:142957341-142957342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73576599	chr6:142957360-142957361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112099993	chr6:142957369-142957370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	21364760	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142955800-142956800	Enhancers	NH-A	brain
2	chr6:142956000-142956600	Enhancers	A549	lung
3	chr6:142956000-142956800	Enhancers	NHEK	skin
4	chr6:142956000-142956800	Enhancers	Osteobl	bone
5	chr6:142956000-142957000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:142956000-142957600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:142956200-142956800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:142956200-142957400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:142956800-142958600	Weak transcription	NH-A	brain

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