Variant report

Variant	esv275199
Chromosome Location	chr6:150449951-150451024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150449726..150452663-chr6:150462298..150465510,3	K562	blood:
2	chr6:150450031..150451577-chr6:150457314..150459716,2	MCF-7	breast:
3	chr6:150449407..150453183-chr6:150455080..150457364,4	K562	blood:
4	chr6:150449726..150451352-chr6:150464010..150466686,2	K562	blood:
5	chr6:150450612..150452742-chr6:150455452..150457364,2	K562	blood:
6	chr6:150448969..150450613-chr6:150472579..150475543,2	K562	blood:
7	chr6:150448057..150450613-chr6:150472579..150475543,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198729	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4870303	chr6:150449951-150449952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574635704	chr6:150449977-150449978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573628033	chr6:150450019-150450020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543411456	chr6:150450022-150450023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557355613	chr6:150450033-150450034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6922684	chr6:150450034-150450035	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs115901655	chr6:150450054-150450055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536180878	chr6:150450130-150450131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528646488	chr6:150450132-150450133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542452285	chr6:150450142-150450143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138179563	chr6:150450148-150450149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9479735	chr6:150450181-150450182	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575575924	chr6:150450216-150450217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557850456	chr6:150450229-150450230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550572307	chr6:150450237-150450238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6940902	chr6:150450256-150450257	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117509935	chr6:150450298-150450299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189935349	chr6:150450303-150450304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115851942	chr6:150450304-150450305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535264310	chr6:150450377-150450378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116248895	chr6:150450379-150450380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113024912	chr6:150450384-150450385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544668500	chr6:150450396-150450397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62440031	chr6:150450397-150450398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6941114	chr6:150450411-150450412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145348396	chr6:150450419-150450420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545878193	chr6:150450420-150450421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146441020	chr6:150450434-150450435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140818608	chr6:150450447-150450448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542438145	chr6:150450456-150450457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562294277	chr6:150450457-150450458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531144798	chr6:150450461-150450462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560715243	chr6:150450465-150450466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181154786	chr6:150450491-150450492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564030037	chr6:150450493-150450494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28406495	chr6:150450544-150450545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138344820	chr6:150450549-150450550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185901926	chr6:150450565-150450566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529181175	chr6:150450613-150450614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531222420	chr6:150450636-150450637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113652046	chr6:150450671-150450672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34214170	chr6:150450686-150450687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548752840	chr6:150450689-150450690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568675304	chr6:150450829-150450830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551415442	chr6:150450863-150450864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537670412	chr6:150450874-150450875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551003562	chr6:150450894-150450895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570863962	chr6:150450896-150450897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539811022	chr6:150450897-150450898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190314597	chr6:150450911-150450912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150440600-150452600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:150448600-150450400	Weak transcription	Placenta	Placenta
3	chr6:150450400-150450800	Enhancers	Placenta	Placenta

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