Variant report

Variant	nsv823773
Chromosome Location	chr6:92345695-92347729
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	chr6:92338713..92341211-chr6:92345122..92346785,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115208870	chr6:92345724-92345725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571202322	chr6:92345727-92345728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562204761	chr6:92345736-92345737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181372121	chr6:92345762-92345763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550907765	chr6:92345779-92345780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141917620	chr6:92345802-92345803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540107925	chr6:92345830-92345831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185851517	chr6:92345851-92345852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567103104	chr6:92345862-92345863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536983893	chr6:92345872-92345873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74481235	chr6:92345879-92345880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554414419	chr6:92345913-92345914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80026253	chr6:92345941-92345942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536658071	chr6:92346006-92346007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556883013	chr6:92346008-92346009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374057938	chr6:92346020-92346021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79595639	chr6:92346026-92346027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576749503	chr6:92346043-92346044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545721502	chr6:92346064-92346065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552834531	chr6:92346088-92346089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190260375	chr6:92346116-92346117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146088365	chr6:92346217-92346218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79498228	chr6:92346227-92346228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181118125	chr6:92346277-92346278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7450346	chr6:92346298-92346299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186045681	chr6:92346314-92346315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544299746	chr6:92346355-92346356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140053379	chr6:92346397-92346398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143799211	chr6:92346486-92346487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547356274	chr6:92346491-92346492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567167530	chr6:92346587-92346588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529466629	chr6:92346592-92346593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76226741	chr6:92346613-92346614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568079153	chr6:92346617-92346618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536265448	chr6:92346641-92346642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371402204	chr6:92346675-92346676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537121453	chr6:92346716-92346717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552757988	chr6:92346747-92346748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370769609	chr6:92346759-92346760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570150519	chr6:92346777-92346778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190900692	chr6:92346787-92346788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552848899	chr6:92346804-92346805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572795595	chr6:92346818-92346819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541695344	chr6:92346831-92346832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555519656	chr6:92346839-92346840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146838136	chr6:92346877-92346878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544709723	chr6:92346895-92346896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1999644	chr6:92346941-92346942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139418580	chr6:92346949-92346950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540629197	chr6:92346957-92346958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92345200-92347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:92345400-92347800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:92347400-92348600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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