Variant report

Variant	nsv981160
Chromosome Location	chr6:80772505-80775545
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	chr6:80765413..80768745-chr6:80769381..80772571,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373147594	chr6:80772512-80772513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576637479	chr6:80772541-80772542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536177585	chr6:80772592-80772593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555682184	chr6:80772617-80772618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6924930	chr6:80772643-80772644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs60216617	chr6:80772746-80772747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557798183	chr6:80772800-80772801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192123001	chr6:80772804-80772805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571279354	chr6:80772842-80772843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183068856	chr6:80772847-80772848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145130817	chr6:80772941-80772942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4386773	chr6:80772997-80772998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs34860156	chr6:80773030-80773031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368181739	chr6:80773090-80773091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550945341	chr6:80773119-80773120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187063117	chr6:80773148-80773149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192735328	chr6:80773162-80773163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557931634	chr6:80773176-80773177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185017608	chr6:80773180-80773181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527442175	chr6:80773190-80773191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62406015	chr6:80773196-80773197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs71551677	chr6:80773204-80773205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369792832	chr6:80773205-80773206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35324341	chr6:80773214-80773215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570532575	chr6:80773242-80773243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386703047	chr6:80773249-80773250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6930227	chr6:80773250-80773251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs569670159	chr6:80773256-80773257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149031352	chr6:80773342-80773343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555988679	chr6:80773377-80773378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142087615	chr6:80773460-80773461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201627977	chr6:80773502-80773503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151144497	chr6:80773537-80773538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557958540	chr6:80773547-80773548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189079359	chr6:80773594-80773595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141185890	chr6:80773610-80773611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557075642	chr6:80773615-80773616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4054978	chr6:80773616-80773617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573931572	chr6:80773687-80773688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542664981	chr6:80773695-80773696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561981639	chr6:80773779-80773780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368011130	chr6:80773792-80773793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371400701	chr6:80773805-80773806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569885131	chr6:80773817-80773818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574253465	chr6:80773849-80773850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527604065	chr6:80773938-80773939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541204467	chr6:80773958-80773959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537324845	chr6:80773967-80773968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201031449	chr6:80774012-80774013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533048044	chr6:80774044-80774045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80764600-80777200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:80764800-80784400	Weak transcription	Thymus	Thymus
3	chr6:80769800-80774000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:80772200-80772600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:80772200-80772800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:80774200-80774400	Enhancers	K562	blood

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