Variant report

Variant	nsv970730
Chromosome Location	chr6:77165833-77172920
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	chr6:77172267..77174922-chr6:77177230..77180103,2	K562	blood:

Extended variants
information (count: 273 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371001406	chr6:77165913-77165914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35464128	chr6:77165916-77165917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74605638	chr6:77165947-77165948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542519670	chr6:77165979-77165980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560969869	chr6:77165997-77165998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181914314	chr6:77165999-77166000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184757054	chr6:77166037-77166038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564631042	chr6:77166051-77166052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532040688	chr6:77166133-77166134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117190662	chr6:77166139-77166140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569889638	chr6:77166140-77166141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190650578	chr6:77166150-77166151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549398296	chr6:77166237-77166238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140152056	chr6:77166250-77166251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534698612	chr6:77166263-77166264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150303338	chr6:77166281-77166282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571771789	chr6:77166343-77166344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6910350	chr6:77166368-77166369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557206117	chr6:77166407-77166408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575492201	chr6:77166413-77166414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536575766	chr6:77166426-77166427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147570304	chr6:77166481-77166482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530617389	chr6:77166490-77166491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539859155	chr6:77166496-77166497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564495732	chr6:77166513-77166514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141946920	chr6:77166537-77166538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543869939	chr6:77166567-77166568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180767286	chr6:77166570-77166571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548849300	chr6:77166587-77166588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563574798	chr6:77166595-77166596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186151871	chr6:77166674-77166675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549699291	chr6:77166712-77166713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191126873	chr6:77166714-77166715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367636052	chr6:77166795-77166796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528736077	chr6:77166819-77166820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181294924	chr6:77166835-77166836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571633379	chr6:77166860-77166861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34531470	chr6:77166861-77166862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548714923	chr6:77166866-77166867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539166470	chr6:77166875-77166876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551070520	chr6:77166919-77166920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569078561	chr6:77166923-77166924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12201715	chr6:77167007-77167008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554709978	chr6:77167030-77167031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117057298	chr6:77167036-77167037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146252884	chr6:77167044-77167045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138929239	chr6:77167065-77167066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7451555	chr6:77167126-77167127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567153659	chr6:77167174-77167175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576414687	chr6:77167181-77167182	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77156600-77170200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:77169800-77170000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:77170000-77176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:77170200-77170400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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