Variant report

Variant	nsv3895
Chromosome Location	chr3:83140094-83185048
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	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
2	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:

Extended variants
information (count: 227 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546920049	chr3:83140150-83140151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529378262	chr3:83140287-83140288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114951053	chr3:83140300-83140301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568953709	chr3:83140318-83140319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548586164	chr3:83140458-83140459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531586751	chr3:83140461-83140462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551394751	chr3:83140555-83140556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370918977	chr3:83140574-83140575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547086037	chr3:83140594-83140595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533768880	chr3:83140654-83140655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116538989	chr3:83140663-83140664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567355003	chr3:83140667-83140668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529573130	chr3:83140715-83140716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192074076	chr3:83140720-83140721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75301403	chr3:83140748-83140749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373703397	chr3:83140766-83140767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539199664	chr3:83140777-83140778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575954220	chr3:83140783-83140784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140859472	chr3:83140815-83140816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201419096	chr3:83140822-83140823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377515169	chr3:83140880-83140881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375811867	chr3:83140890-83140891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578216622	chr3:83140941-83140942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35378623	chr3:83140944-83140945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371027406	chr3:83140972-83140973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183434503	chr3:83140974-83140975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77160128	chr3:83140983-83140984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560353162	chr3:83141000-83141001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200554573	chr3:83141051-83141052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529341173	chr3:83141058-83141059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144605510	chr3:83141082-83141083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562501187	chr3:83141126-83141127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538522969	chr3:83141150-83141151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531622124	chr3:83141151-83141152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551623863	chr3:83141176-83141177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67972574	chr3:83141183-83141184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199800442	chr3:83141185-83141186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565013005	chr3:83141187-83141188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527617836	chr3:83141225-83141226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147465413	chr3:83141242-83141243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567514778	chr3:83141250-83141251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536309199	chr3:83141251-83141252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372435550	chr3:83141256-83141257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549914532	chr3:83141280-83141281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75536408	chr3:83141305-83141306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538279989	chr3:83141314-83141315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4256143	chr3:83141381-83141382	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79587642	chr3:83141407-83141408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188899987	chr3:83141450-83141451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367566149	chr3:83141519-83141520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83139200-83142000	Weak transcription	Pancreas	Pancrea
2	chr3:83140800-83142200	Enhancers	Liver	Liver
3	chr3:83141600-83142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:83142200-83142600	Flanking Active TSS	Liver	Liver
5	chr3:83142200-83143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:83142600-83142800	Enhancers	Liver	Liver
7	chr3:83145600-83145800	Enhancers	Pancreas	Pancrea
8	chr3:83163000-83163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:83163200-83164200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:83164200-83165400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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