Variant report

Variant	esv3448409
Chromosome Location	chr3:84151612-84153610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541291109	chr3:84151614-84151615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182577467	chr3:84151618-84151619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375864943	chr3:84151674-84151675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545118721	chr3:84151681-84151682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563762404	chr3:84151752-84151753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529131306	chr3:84151779-84151780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150929208	chr3:84151789-84151790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548880108	chr3:84151797-84151798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543145227	chr3:84151922-84151923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115122932	chr3:84151966-84151967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187283118	chr3:84151986-84151987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368902819	chr3:84152007-84152008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547254109	chr3:84152185-84152186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571877027	chr3:84152237-84152238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112688431	chr3:84152262-84152263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9847846	chr3:84152266-84152267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144038498	chr3:84152307-84152308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569322069	chr3:84152384-84152385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536702181	chr3:84152385-84152386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370904548	chr3:84152409-84152410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58604442	chr3:84152410-84152411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112103894	chr3:84152420-84152421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185449939	chr3:84152427-84152428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397950070	chr3:84152430-84152431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199883386	chr3:84152433-84152434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190371354	chr3:84152457-84152458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550984008	chr3:84152491-84152492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577898969	chr3:84152494-84152495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193206693	chr3:84152499-84152500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113454224	chr3:84152551-84152552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575728293	chr3:84152565-84152566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543107000	chr3:84152580-84152581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561401183	chr3:84152588-84152589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528661973	chr3:84152595-84152596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540519040	chr3:84152597-84152598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543923964	chr3:84152602-84152603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188009466	chr3:84152624-84152625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111297801	chr3:84152637-84152638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550867792	chr3:84152708-84152709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569282984	chr3:84152709-84152710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565182413	chr3:84152751-84152752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62258405	chr3:84152789-84152790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570452458	chr3:84152799-84152800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530440043	chr3:84152836-84152837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180918732	chr3:84152862-84152863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548654813	chr3:84152899-84152900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567295324	chr3:84152901-84152902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534805028	chr3:84152937-84152938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552851834	chr3:84152947-84152948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200937750	chr3:84152963-84152964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84146000-84156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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