Variant report

Variant	nsv519810
Chromosome Location	chr6:139742788-139743807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139741799..139744406-chr6:139748409..139752579,3	K562	blood:
2	chr6:139741702..139744406-chr6:139748336..139753642,6	K562	blood:
3	chr6:139735050..139736826-chr6:139743285..139744933,2	K562	blood:
4	chr6:139696074..139699588-chr6:139740116..139744007,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs887780	chr6:139742788-139742789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554961884	chr6:139742806-139742807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573621047	chr6:139742850-139742851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148482320	chr6:139742865-139742866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78126557	chr6:139742911-139742912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141771190	chr6:139742968-139742969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150566071	chr6:139742997-139742998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545087907	chr6:139743001-139743002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139909017	chr6:139743002-139743003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114886555	chr6:139743009-139743010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549301127	chr6:139743032-139743033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184380762	chr6:139743041-139743042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550412461	chr6:139743073-139743074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370815086	chr6:139743077-139743078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9399277	chr6:139743084-139743085	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189314655	chr6:139743093-139743094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571582305	chr6:139743124-139743125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538758331	chr6:139743158-139743159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553804242	chr6:139743170-139743171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565981512	chr6:139743242-139743243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536437928	chr6:139743244-139743245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555813052	chr6:139743245-139743246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144544885	chr6:139743263-139743264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539292761	chr6:139743277-139743278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374491007	chr6:139743378-139743379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555277036	chr6:139743455-139743456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546365569	chr6:139743456-139743457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576639449	chr6:139743506-139743507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535791289	chr6:139743516-139743517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555629376	chr6:139743530-139743531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144322654	chr6:139743571-139743572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572315300	chr6:139743686-139743687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377065850	chr6:139743696-139743697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537933260	chr6:139743738-139743739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs887779	chr6:139743807-139743808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Basal cell lymphoma	21115979	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139741000-139743400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:139741000-139743400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:139741200-139743000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:139741200-139743200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:139741200-139743400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:139741800-139743600	Enhancers	Ovary	ovary
7	chr6:139742200-139742800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:139742400-139743000	Enhancers	K562	blood
9	chr6:139742400-139743200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:139742400-139743400	Weak transcription	Pancreas	Pancrea
11	chr6:139742400-139744000	Enhancers	Left Ventricle	heart
12	chr6:139742400-139745600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:139742600-139743000	Enhancers	HepG2	liver
14	chr6:139743000-139743400	Weak transcription	K562	blood
15	chr6:139743000-139744800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:139743200-139745600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:139743400-139743600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:139743400-139743600	Enhancers	K562	blood
19	chr6:139743400-139743800	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:139743400-139744000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:139743400-139744200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:139743400-139744400	Enhancers	Pancreas	Pancrea
23	chr6:139743600-139743800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:139743600-139743800	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:139743600-139743800	Enhancers	Stomach Mucosa	stomach
26	chr6:139743600-139745200	Weak transcription	K562	blood
27	chr6:139743800-139744000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:139743800-139745600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:139743800-139754600	Weak transcription	Stomach Mucosa	stomach

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