Variant report

Variant	esv3474279
Chromosome Location	chr6:139813411-139815075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139809853..139812298-chr6:139813287..139815941,2	MCF-7	breast:
2	chr6:139812402..139815311-chr6:139816711..139818432,2	K562	blood:
3	chr6:139693524..139696523-chr6:139813770..139815573,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561770075	chr6:139813441-139813442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185313088	chr6:139813442-139813443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150022803	chr6:139813468-139813469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375856478	chr6:139813473-139813474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35420139	chr6:139813499-139813500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113209857	chr6:139813501-139813502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140056295	chr6:139813507-139813508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556018502	chr6:139813515-139813516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567036166	chr6:139813533-139813534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534518333	chr6:139813546-139813547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143596528	chr6:139813578-139813579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112475515	chr6:139813592-139813593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535419297	chr6:139813621-139813622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556823077	chr6:139813625-139813626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9389689	chr6:139813632-139813633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545710762	chr6:139813633-139813634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113863469	chr6:139813640-139813641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572676946	chr6:139813648-139813649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540141894	chr6:139813652-139813653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545377895	chr6:139813657-139813658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143804966	chr6:139813660-139813661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558887198	chr6:139813670-139813671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529311376	chr6:139813703-139813704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544591170	chr6:139813714-139813715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370287485	chr6:139813742-139813743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562869578	chr6:139813807-139813808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533482416	chr6:139813818-139813819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190607301	chr6:139813827-139813828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551878257	chr6:139813891-139813892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560670121	chr6:139813892-139813893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527846504	chr6:139813936-139813937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549735525	chr6:139813938-139813939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs151101539	chr6:139813954-139813955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112853907	chr6:139813992-139813993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146679800	chr6:139814022-139814023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138725103	chr6:139814044-139814045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539544092	chr6:139814055-139814056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557385641	chr6:139814062-139814063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572713214	chr6:139814076-139814077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10872516	chr6:139814140-139814141	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146935434	chr6:139814158-139814159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371891452	chr6:139814212-139814213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544314766	chr6:139814228-139814229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575817859	chr6:139814260-139814261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561927132	chr6:139814267-139814268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576412176	chr6:139814268-139814269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545525907	chr6:139814320-139814321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs137890869	chr6:139814329-139814330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527933543	chr6:139814332-139814333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180954214	chr6:139814360-139814361	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
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
Breast cancer	21785460	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139804000-139818200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:139812000-139817600	Weak transcription	HepG2	liver

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