Variant report

Variant	nsv605226
Chromosome Location	chr6:164544760-164549712
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	chr6:164542325..164544675-chr6:164545731..164548053,2	K562	blood:
2	chr6:164527209..164529090-chr6:164549117..164551692,2	K562	blood:

Extended variants
information (count: 176 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374378566	chr6:164544761-164544762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555138317	chr6:164544776-164544777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574971860	chr6:164544780-164544781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534283041	chr6:164544784-164544785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137863955	chr6:164544830-164544831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565613212	chr6:164544843-164544844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187345197	chr6:164544981-164544982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74410691	chr6:164545013-164545014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569032722	chr6:164545024-164545025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140711948	chr6:164545039-164545040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536591334	chr6:164545047-164545048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576407401	chr6:164545100-164545101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114032298	chr6:164545108-164545109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554901808	chr6:164545119-164545120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9356185	chr6:164545121-164545122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376611999	chr6:164545131-164545132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60763998	chr6:164545157-164545158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71546950	chr6:164545160-164545161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80345592	chr6:164545161-164545162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9458998	chr6:164545162-164545163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367995014	chr6:164545189-164545190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554130780	chr6:164545224-164545225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563856359	chr6:164545290-164545291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138938904	chr6:164545297-164545298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549371665	chr6:164545330-164545331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17066	chr6:164545333-164545334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71569441	chr6:164545347-164545348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2113	chr6:164545379-164545380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9365661	chr6:164545423-164545424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9365662	chr6:164545509-164545510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113241731	chr6:164545548-164545549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62435914	chr6:164545552-164545553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs206722	chr6:164545582-164545583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534148894	chr6:164545586-164545587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554272985	chr6:164545592-164545593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577422988	chr6:164545644-164545645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539796896	chr6:164545655-164545656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115053281	chr6:164545687-164545688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562779701	chr6:164545710-164545711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549070440	chr6:164545713-164545714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576392814	chr6:164545833-164545834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370456509	chr6:164545843-164545844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542086682	chr6:164545856-164545857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116164024	chr6:164545861-164545862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115394860	chr6:164545906-164545907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540878880	chr6:164545917-164545918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11759664	chr6:164545960-164545961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570283196	chr6:164545969-164545970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140868668	chr6:164545970-164545971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532863111	chr6:164545976-164545977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164543600-164554400	Weak transcription	Pancreas	Pancrea
2	chr6:164544600-164544800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:164544800-164546200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:164546200-164546400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:164548600-164549000	Weak transcription	Fetal Heart	heart
6	chr6:164548800-164549000	Enhancers	Right Ventricle	heart
7	chr6:164549000-164549200	Enhancers	Fetal Heart	heart
8	chr6:164549000-164551000	Weak transcription	Right Ventricle	heart
9	chr6:164549200-164551000	Weak transcription	Fetal Heart	heart
10	chr6:164549600-164550000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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