Variant report

Variant	nsv966679
Chromosome Location	chr6:49144628-49152623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 288 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:288 , 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	rs563909078	chr6:49144666-49144667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531027535	chr6:49144717-49144718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576222345	chr6:49144852-49144853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549259558	chr6:49144858-49144859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183769424	chr6:49144922-49144923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186854413	chr6:49144952-49144953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191285653	chr6:49144983-49144984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571230478	chr6:49144993-49144994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182707659	chr6:49145037-49145038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550345745	chr6:49145070-49145071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564275908	chr6:49145079-49145080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112878578	chr6:49145089-49145090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536341202	chr6:49145090-49145091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554369545	chr6:49145095-49145096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578056880	chr6:49145123-49145124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540320609	chr6:49145138-49145139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186604093	chr6:49145198-49145199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143586806	chr6:49145226-49145227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578243907	chr6:49145235-49145236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372067377	chr6:49145242-49145243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529427204	chr6:49145243-49145244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6912559	chr6:49145304-49145305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75529998	chr6:49145314-49145315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370314039	chr6:49145333-49145334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369528866	chr6:49145351-49145352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116719156	chr6:49145406-49145407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79632688	chr6:49145415-49145416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529113617	chr6:49145521-49145522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561242835	chr6:49145531-49145532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528441782	chr6:49145549-49145550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540211465	chr6:49145550-49145551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191610170	chr6:49145573-49145574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183339894	chr6:49145610-49145611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143829815	chr6:49145667-49145668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532263805	chr6:49145689-49145690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6913335	chr6:49145766-49145767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67161842	chr6:49145775-49145776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79132624	chr6:49145811-49145812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192860355	chr6:49145859-49145860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566464200	chr6:49145882-49145883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533899602	chr6:49145961-49145962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185182934	chr6:49145976-49145977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150042916	chr6:49146000-49146001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145317719	chr6:49146004-49146005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190060016	chr6:49146070-49146071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542875658	chr6:49146071-49146072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555172985	chr6:49146079-49146080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572987152	chr6:49146094-49146095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191522458	chr6:49146105-49146106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73431775	chr6:49146115-49146116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49133000-49158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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