Variant report

Variant	esv9745
Chromosome Location	chr6:131809780-131816116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 282 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17656494	chr6:131809785-131809786	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77037406	chr6:131809821-131809822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386705889	chr6:131809824-131809825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116231607	chr6:131809825-131809826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533876342	chr6:131809865-131809866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565712439	chr6:131809892-131809893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34528680	chr6:131809917-131809918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2807278	chr6:131809920-131809921	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
9	rs186737507	chr6:131809928-131809929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544407846	chr6:131809949-131809950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2608968	chr6:131809958-131809959	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2781657	chr6:131809959-131809960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35138731	chr6:131809986-131809987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575721584	chr6:131809987-131809988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541456766	chr6:131810040-131810041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560230184	chr6:131810048-131810049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189581906	chr6:131810050-131810051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79039113	chr6:131810106-131810107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77131834	chr6:131810107-131810108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2446221	chr6:131810223-131810224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2446222	chr6:131810238-131810239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532562835	chr6:131810403-131810404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551164853	chr6:131810404-131810405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569210006	chr6:131810421-131810422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536803697	chr6:131810427-131810428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141647693	chr6:131810450-131810451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77819585	chr6:131810490-131810491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2446223	chr6:131810634-131810635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558394259	chr6:131810691-131810692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570419771	chr6:131810711-131810712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537593628	chr6:131810741-131810742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371882469	chr6:131810770-131810771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59865379	chr6:131810792-131810793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2807279	chr6:131810794-131810795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181115726	chr6:131810795-131810796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574439053	chr6:131810811-131810812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142757424	chr6:131810860-131810861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2608969	chr6:131810924-131810925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572043229	chr6:131810928-131810929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531096502	chr6:131810948-131810949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186151252	chr6:131810957-131810958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35682526	chr6:131810983-131810984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375858465	chr6:131810990-131810991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386705890	chr6:131811030-131811031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1572211	chr6:131811031-131811032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374626650	chr6:131811058-131811059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150506825	chr6:131811089-131811090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1572212	chr6:131811111-131811112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148636681	chr6:131811120-131811121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546949257	chr6:131811127-131811128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131799400-131811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:131809400-131810000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:131810000-131811600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:131811200-131812000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:131811200-131812000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:131811400-131813400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:131811600-131812200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:131811600-131813600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:131812000-131812200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:131812200-131812800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:131812800-131813000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:131813000-131813400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:131813400-131815600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:131815600-131818600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links