Variant report

Variant	esv3325984
Chromosome Location	chr6:140597059-140600457
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	chr6:140591977..140594377-chr6:140599349..140601763,2	K562	blood:
2	chr6:140598425..140601795-chr6:140602514..140606441,4	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566503733	chr6:140597102-140597103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533914042	chr6:140597120-140597121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555676242	chr6:140597128-140597129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574243845	chr6:140597184-140597185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538435382	chr6:140597199-140597200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181270981	chr6:140597207-140597208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575310849	chr6:140597234-140597235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34111477	chr6:140597280-140597281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145788284	chr6:140597320-140597321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570310092	chr6:140597328-140597329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541227464	chr6:140597337-140597338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370350480	chr6:140597346-140597347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572909678	chr6:140597375-140597376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9389780	chr6:140597397-140597398	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368447998	chr6:140597417-140597418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573392514	chr6:140597450-140597451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529130614	chr6:140597462-140597463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73776110	chr6:140597509-140597510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116579526	chr6:140597521-140597522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72975872	chr6:140597526-140597527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562489482	chr6:140597653-140597654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186218454	chr6:140597778-140597779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374055428	chr6:140597815-140597816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114300514	chr6:140597816-140597817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145846716	chr6:140597817-140597818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189793474	chr6:140597833-140597834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79484429	chr6:140597843-140597844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371339858	chr6:140597867-140597868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556735940	chr6:140597948-140597949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571775371	chr6:140597975-140597976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531224423	chr6:140598101-140598102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539219367	chr6:140598111-140598112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143099858	chr6:140598144-140598145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572970463	chr6:140598145-140598146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560836461	chr6:140598161-140598162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555024437	chr6:140598172-140598173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573895465	chr6:140598197-140598198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79263539	chr6:140598219-140598220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148304809	chr6:140598314-140598315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181846819	chr6:140598331-140598332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544796550	chr6:140598338-140598339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560262420	chr6:140598355-140598356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527736949	chr6:140598408-140598409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549372328	chr6:140598427-140598428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372398297	chr6:140598464-140598465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141444280	chr6:140598561-140598562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540624408	chr6:140598569-140598570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531705789	chr6:140598617-140598618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565037569	chr6:140598671-140598672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527444550	chr6:140598727-140598728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Colorectal cancer	16272173	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
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
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140594000-140604400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:140596800-140597600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:140597400-140598200	Enhancers	NHEK	skin
4	chr6:140597600-140602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:140598200-140602200	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links