Variant report

Variant	nsv969301
Chromosome Location	chr6:48940479-48942979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573377979	chr6:48940479-48940480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189261122	chr6:48940543-48940544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559019814	chr6:48940546-48940547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374112432	chr6:48940609-48940610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577441815	chr6:48940647-48940648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544243732	chr6:48940648-48940649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561772430	chr6:48940664-48940665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562529903	chr6:48940685-48940686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537082710	chr6:48940728-48940729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180987089	chr6:48940775-48940776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7755948	chr6:48940886-48940887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111913400	chr6:48940923-48940924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185418049	chr6:48940940-48940941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189353475	chr6:48940968-48940969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181367072	chr6:48940976-48940977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186040374	chr6:48941098-48941099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9395435	chr6:48941124-48941125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555309418	chr6:48941127-48941128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190058297	chr6:48941160-48941161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181398922	chr6:48941162-48941163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373786881	chr6:48941173-48941174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535411703	chr6:48941176-48941177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75315938	chr6:48941180-48941181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565752152	chr6:48941181-48941182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573479135	chr6:48941192-48941193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534156898	chr6:48941210-48941211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77058604	chr6:48941211-48941212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9369829	chr6:48941218-48941219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538156589	chr6:48941238-48941239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574358879	chr6:48941294-48941295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534710074	chr6:48941330-48941331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186660400	chr6:48941343-48941344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143362574	chr6:48941350-48941351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151324595	chr6:48941399-48941400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572483338	chr6:48941417-48941418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545726973	chr6:48941442-48941443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190655778	chr6:48941487-48941488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140577821	chr6:48941499-48941500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550103645	chr6:48941554-48941555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543022768	chr6:48941566-48941567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182894083	chr6:48941586-48941587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35367744	chr6:48941670-48941671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115887595	chr6:48941672-48941673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547347451	chr6:48941673-48941674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11310685	chr6:48941685-48941686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397792815	chr6:48941696-48941697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548174241	chr6:48941705-48941706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568254030	chr6:48941744-48941745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565682086	chr6:48941774-48941775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539507968	chr6:48941871-48941872	Weak transcription	n/a	n/a	Overlapped CNVs	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	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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