Variant report

Variant	nsv821650
Chromosome Location	chr6:79002204-79095287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:
2	chr6:79079721..79080316-chr6:79223325..79224142,2	MCF-7	breast:
3	chr6:79037479..79040377-chr6:79044089..79045864,2	K562	blood:
4	chr6:79037479..79040377-chr6:79044089..79045864,2	K562	blood:

Extended variants
information (count: 1171 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1171 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151208733	chr6:79010469-79010470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528148835	chr6:79010476-79010477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551041257	chr6:79010517-79010518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139187167	chr6:79010521-79010522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75684724	chr6:79010522-79010523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550599254	chr6:79010577-79010578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567407166	chr6:79010605-79010606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536561435	chr6:79010644-79010645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550397677	chr6:79010650-79010651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546788917	chr6:79010656-79010657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371696927	chr6:79010676-79010677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566649003	chr6:79010692-79010693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199672970	chr6:79010742-79010743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370270612	chr6:79010744-79010745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573899335	chr6:79010799-79010800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529830112	chr6:79010800-79010801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538867988	chr6:79010913-79010914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559081128	chr6:79010994-79010995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181846290	chr6:79011014-79011015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112999464	chr6:79011021-79011022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149965548	chr6:79011026-79011027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186086109	chr6:79011103-79011104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9361392	chr6:79011176-79011177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78940213	chr6:79011271-79011272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190938574	chr6:79011310-79011311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77475272	chr6:79011327-79011328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200590054	chr6:79011376-79011377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73464221	chr6:79011465-79011466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182449772	chr6:79011502-79011503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546028871	chr6:79011515-79011516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564636933	chr6:79011517-79011518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386702939	chr6:79011552-79011553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375226676	chr6:79011555-79011556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578137435	chr6:79011559-79011560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188317377	chr6:79011568-79011569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141979984	chr6:79011622-79011623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368564812	chr6:79011628-79011629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190074532	chr6:79011669-79011670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529685033	chr6:79011677-79011678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546901080	chr6:79011735-79011736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566810042	chr6:79011741-79011742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538831321	chr6:79011750-79011751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371503872	chr6:79011762-79011763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201649197	chr6:79011769-79011770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28374826	chr6:79011795-79011796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569211883	chr6:79011835-79011836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538354352	chr6:79011857-79011858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183039473	chr6:79011968-79011969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2198322	chr6:79011985-79011986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368889595	chr6:79012248-79012249	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	21272361	CNVD
Medulloblastoma	21163964	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79010400-79011000	Enhancers	HMEC	breast
2	chr6:79011000-79012000	Weak transcription	HMEC	breast
3	chr6:79012200-79012400	Enhancers	HMEC	breast
4	chr6:79017800-79018000	ZNF genes & repeats	Aorta	Aorta
5	chr6:79018000-79020400	Weak transcription	Aorta	Aorta
6	chr6:79031400-79033200	Enhancers	Liver	Liver
7	chr6:79053800-79054200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:79054000-79057200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:79054200-79054600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:79054600-79056600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:79054800-79056200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:79054800-79056800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:79055200-79056000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:79055200-79056600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:79055600-79056000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:79055800-79056200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:79056600-79057600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:79057200-79059600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:79059600-79060400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:79059800-79060200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr6:79080200-79080800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:79080800-79089000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:79089000-79090200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:79090200-79091000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:79091000-79091600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:79091600-79092000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:79092000-79095800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links