Variant report

Variant	nsv965384
Chromosome Location	chr3:82603863-82608331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530837900	chr3:82603910-82603911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140070250	chr3:82603939-82603940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142187441	chr3:82603961-82603962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553973636	chr3:82604029-82604030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573752845	chr3:82604083-82604084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146364145	chr3:82604179-82604180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562623743	chr3:82604250-82604251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531349765	chr3:82604270-82604271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187915044	chr3:82604287-82604288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192942720	chr3:82604329-82604330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564973728	chr3:82604366-82604367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72895765	chr3:82604372-82604373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532487627	chr3:82604373-82604374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79990226	chr3:82604379-82604380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560891671	chr3:82604433-82604434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529451385	chr3:82604511-82604512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549668761	chr3:82604523-82604524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148547663	chr3:82604547-82604548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183319112	chr3:82604571-82604572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532430338	chr3:82604577-82604578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557690130	chr3:82604641-82604642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374378025	chr3:82604670-82604671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142979904	chr3:82604690-82604691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529782732	chr3:82604692-82604693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151106858	chr3:82604789-82604790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553954082	chr3:82604839-82604840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188672837	chr3:82604840-82604841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192387457	chr3:82604855-82604856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139473916	chr3:82604945-82604946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576357043	chr3:82604955-82604956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545029025	chr3:82604971-82604972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532077026	chr3:82604981-82604982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564911469	chr3:82605070-82605071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527274081	chr3:82605075-82605076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547095816	chr3:82605130-82605131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184882210	chr3:82605143-82605144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560790141	chr3:82605164-82605165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368496008	chr3:82605196-82605197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529514848	chr3:82605202-82605203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549267552	chr3:82605209-82605210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565501277	chr3:82605215-82605216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536263259	chr3:82605278-82605279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368037360	chr3:82605317-82605318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144176374	chr3:82605324-82605325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531922495	chr3:82605365-82605366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551655521	chr3:82605407-82605408	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571337176	chr3:82605408-82605409	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs58393384	chr3:82605434-82605435	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs147806418	chr3:82605466-82605467	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554255976	chr3:82605474-82605475	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82603400-82604200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr3:82603400-82604200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:82603600-82604000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:82603600-82604200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:82603600-82604400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:82603600-82604600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:82603800-82607200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:82604000-82604200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:82604000-82606600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:82604200-82605400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:82604200-82607200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:82604200-82607200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:82604400-82605400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:82604400-82606600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:82604600-82605000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:82605000-82607800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:82605200-82605800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:82605400-82605800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:82605400-82605800	Active TSS	Fetal Brain Male	brain
20	chr3:82605400-82606000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:82605600-82607000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:82606000-82607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:82606600-82607800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:82606600-82608000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:82607200-82607600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:82607200-82607600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:82607200-82607600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:82607200-82607800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:82607200-82608000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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