Variant report

Variant	esv3435596
Chromosome Location	chr3:83959653-83964151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188500017	chr3:83959669-83959670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561318055	chr3:83959713-83959714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552887324	chr3:83959737-83959738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369422698	chr3:83959838-83959839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60566291	chr3:83959844-83959845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568912689	chr3:83959861-83959862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532142857	chr3:83959880-83959881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547296010	chr3:83959913-83959914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7432419	chr3:83959938-83959939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568895113	chr3:83959953-83959954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535969867	chr3:83959974-83959975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554722314	chr3:83960003-83960004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566567611	chr3:83960040-83960041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193247997	chr3:83960042-83960043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185703860	chr3:83960090-83960091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147420835	chr3:83960091-83960092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532519753	chr3:83960145-83960146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552719411	chr3:83960153-83960154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138214952	chr3:83960160-83960161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539630575	chr3:83960189-83960190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574655628	chr3:83960194-83960195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574846253	chr3:83960202-83960203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541973024	chr3:83960251-83960252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569294162	chr3:83960321-83960322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560669460	chr3:83960343-83960344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572525647	chr3:83960418-83960419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546466326	chr3:83960463-83960464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4611836	chr3:83960503-83960504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532053352	chr3:83960516-83960517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34751138	chr3:83960557-83960558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562367317	chr3:83960568-83960569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529763679	chr3:83960618-83960619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547962880	chr3:83960649-83960650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566592578	chr3:83960729-83960730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557082613	chr3:83960747-83960748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533737507	chr3:83960756-83960757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551959699	chr3:83960770-83960771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570363516	chr3:83960776-83960777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537767890	chr3:83960807-83960808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180675730	chr3:83960810-83960811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554795892	chr3:83960880-83960881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71617914	chr3:83960913-83960914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574724347	chr3:83960922-83960923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71104928	chr3:83960927-83960928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73131908	chr3:83960928-83960929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200729879	chr3:83960929-83960930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535868937	chr3:83960932-83960933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73131909	chr3:83960956-83960957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572542785	chr3:83960962-83960963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143597893	chr3:83961018-83961019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83953600-83977600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:83960200-83961200	Enhancers	Dnd41	blood
3	chr3:83961200-83962800	Weak transcription	Dnd41	blood
4	chr3:83962800-83963800	Enhancers	Dnd41	blood

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