Variant report

Variant	nsv969447
Chromosome Location	chr6:132837267-132840402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:132839235-132839367	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:132838589-132838770	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132832753..132835723-chr6:132836016..132838181,3	MCF-7	breast:
2	chr6:132837152..132838656-chr6:132841587..132844434,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STX7-1	chr6:132839969-132840434	NONHSAT114966

Variant related genes	Relation type
STX7	TF binding region
ENSG00000079950	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543823192	chr6:132837292-132837293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563501785	chr6:132837305-132837306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76572545	chr6:132837331-132837332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149108258	chr6:132837394-132837395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559883409	chr6:132837408-132837409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528736774	chr6:132837409-132837410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76326915	chr6:132837487-132837488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565606118	chr6:132837524-132837525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs57425922	chr6:132837562-132837563	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375909786	chr6:132837632-132837633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549764242	chr6:132837665-132837666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527276044	chr6:132837670-132837671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143672581	chr6:132837687-132837688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188389521	chr6:132837690-132837691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151029741	chr6:132837694-132837695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371673271	chr6:132837726-132837727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142454092	chr6:132837751-132837752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565424233	chr6:132837772-132837773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534539345	chr6:132837842-132837843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557506474	chr6:132837884-132837885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376724193	chr6:132837886-132837887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548808275	chr6:132837915-132837916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571226284	chr6:132837928-132837929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546263435	chr6:132837937-132837938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536909673	chr6:132837960-132837961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557331168	chr6:132838039-132838040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9389002	chr6:132838096-132838097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181296521	chr6:132838143-132838144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542999752	chr6:132838149-132838150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553538783	chr6:132838161-132838162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370375199	chr6:132838175-132838176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs57129089	chr6:132838201-132838202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs68148929	chr6:132838219-132838220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573353925	chr6:132838325-132838326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9493347	chr6:132838346-132838347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371059695	chr6:132838354-132838355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369920548	chr6:132838357-132838358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9493348	chr6:132838376-132838377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9321347	chr6:132838416-132838417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78161033	chr6:132838428-132838429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116230587	chr6:132838454-132838455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117775277	chr6:132838481-132838482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184356476	chr6:132838490-132838491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139249510	chr6:132838491-132838492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551172284	chr6:132838508-132838509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77456615	chr6:132838524-132838525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537249686	chr6:132838544-132838545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369283283	chr6:132838605-132838606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs116802988	chr6:132838634-132838635	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs567536441	chr6:132838637-132838638	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132835400-132837400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:132837200-132842000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:132837400-132842000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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