Variant report

Variant	nsv886298
Chromosome Location	chr6:79115925-79163463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79150451..79152347-chr6:79160365..79162316,2	MCF-7	breast:
2	chr6:79150451..79152347-chr6:79160365..79162316,2	MCF-7	breast:
3	chr6:79159177..79161505-chr6:79223349..79225397,2	MCF-7	breast:
4	chr6:78884216..78887143-chr6:79140755..79143140,2	K562	blood:
5	chr6:79145754..79146269-chr6:79223569..79224247,2	MCF-7	breast:

Extended variants
information (count: 398 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185624340	chr6:79123604-79123605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536878750	chr6:79123645-79123646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555156074	chr6:79123754-79123755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190480437	chr6:79123755-79123756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528844678	chr6:79123783-79123784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180881779	chr6:79123797-79123798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12192598	chr6:79123808-79123809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569245866	chr6:79123839-79123840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577256244	chr6:79123939-79123940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145991940	chr6:79123944-79123945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563269631	chr6:79123990-79123991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529061409	chr6:79124012-79124013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115544020	chr6:79124035-79124036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184473744	chr6:79124037-79124038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34655350	chr6:79124064-79124065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112900302	chr6:79124087-79124088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528538988	chr6:79124127-79124128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551915163	chr6:79124160-79124161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116404288	chr6:79124166-79124167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537491254	chr6:79124226-79124227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551275347	chr6:79124246-79124247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12194127	chr6:79124261-79124262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549031127	chr6:79124291-79124292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536562079	chr6:79124320-79124321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141305003	chr6:79124325-79124326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1840032	chr6:79124329-79124330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376615775	chr6:79124363-79124364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139225697	chr6:79124382-79124383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188801640	chr6:79124405-79124406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368689774	chr6:79124435-79124436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181173977	chr6:79124437-79124438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543046405	chr6:79124439-79124440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149872855	chr6:79124460-79124461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185586613	chr6:79124505-79124506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58278525	chr6:79124517-79124518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114801094	chr6:79124537-79124538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1840031	chr6:79124539-79124540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113889567	chr6:79124552-79124553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565408118	chr6:79124601-79124602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565135979	chr6:79124619-79124620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12194220	chr6:79124622-79124623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190689617	chr6:79124662-79124663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576325878	chr6:79124730-79124731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567577644	chr6:79124739-79124740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530375837	chr6:79124768-79124769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140370691	chr6:79124795-79124796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113098449	chr6:79124800-79124801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs236234	chr6:79124801-79124802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181630620	chr6:79124813-79124814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568741005	chr6:79124817-79124818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79123600-79126000	Weak transcription	HUVEC	blood vessel
2	chr6:79126000-79126400	Enhancers	HUVEC	blood vessel
3	chr6:79138600-79138800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:79139000-79145800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:79139800-79140200	Enhancers	Fetal Brain Male	brain
6	chr6:79140200-79142000	Weak transcription	Fetal Brain Male	brain
7	chr6:79140800-79142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:79142000-79142200	Enhancers	Fetal Brain Male	brain
9	chr6:79144200-79145000	Enhancers	Fetal Brain Female	brain
10	chr6:79145800-79146200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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