Variant report

Variant	esv3388119
Chromosome Location	chr3:54769923-54770303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577048691	chr3:54769932-54769933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561833519	chr3:54769949-54769950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147017320	chr3:54769950-54769951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141714450	chr3:54769979-54769980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573926938	chr3:54770017-54770018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573410542	chr3:54770019-54770020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373080147	chr3:54770022-54770023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185018202	chr3:54770025-54770026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188605600	chr3:54770029-54770030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs35403015	chr3:54770033-54770034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181164527	chr3:54770034-54770035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs7434214	chr3:54770036-54770037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373848384	chr3:54770038-54770039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2360028	chr3:54770045-54770046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs5027559	chr3:54770049-54770050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201663679	chr3:54770052-54770053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7426756	chr3:54770053-54770054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191409874	chr3:54770058-54770059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7432185	chr3:54770073-54770074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199944961	chr3:54770078-54770079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201221924	chr3:54770079-54770080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376042012	chr3:54770080-54770081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13098542	chr3:54770084-54770085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549125791	chr3:54770086-54770087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370901179	chr3:54770088-54770089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13098101	chr3:54770090-54770091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567365316	chr3:54770097-54770098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13098233	chr3:54770101-54770102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368829174	chr3:54770103-54770104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182428169	chr3:54770105-54770106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372191909	chr3:54770109-54770110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373167447	chr3:54770114-54770115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377407606	chr3:54770116-54770117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370723910	chr3:54770119-54770120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62254473	chr3:54770127-54770128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62254474	chr3:54770130-54770131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374897481	chr3:54770131-54770132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373750014	chr3:54770136-54770137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62254476	chr3:54770143-54770144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111514436	chr3:54770147-54770148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369121576	chr3:54770148-54770149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367945963	chr3:54770154-54770155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6810032	chr3:54770156-54770157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6772607	chr3:54770158-54770159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6797817	chr3:54770169-54770170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546438085	chr3:54770171-54770172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140869099	chr3:54770184-54770185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375650039	chr3:54770188-54770189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72872284	chr3:54770193-54770194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575429003	chr3:54770227-54770228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54767400-54770400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:54767400-54770600	Enhancers	Brain Germinal Matrix	brain
3	chr3:54768400-54790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:54769200-54772400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:54770200-54771000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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