Variant report

Variant	esv3337309
Chromosome Location	chr3:28421698-28423546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530382400	chr3:28421758-28421759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138265935	chr3:28421765-28421766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563225696	chr3:28421766-28421767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144096619	chr3:28421769-28421770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552344159	chr3:28421770-28421771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559489287	chr3:28421827-28421828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185165206	chr3:28421842-28421843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547859198	chr3:28421896-28421897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568173642	chr3:28421902-28421903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112062439	chr3:28421934-28421935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190409978	chr3:28422028-28422029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6771057	chr3:28422045-28422046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549767826	chr3:28422049-28422050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569754741	chr3:28422056-28422057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550619351	chr3:28422058-28422059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567498130	chr3:28422107-28422108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375172415	chr3:28422190-28422191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139922064	chr3:28422197-28422198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149402258	chr3:28422231-28422232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534918882	chr3:28422425-28422426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578178124	chr3:28422426-28422427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555115542	chr3:28422427-28422428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540488402	chr3:28422437-28422438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560720939	chr3:28422447-28422448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575032900	chr3:28422461-28422462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373040439	chr3:28422466-28422467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61244508	chr3:28422481-28422482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376030289	chr3:28422491-28422492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60488294	chr3:28422512-28422513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371183671	chr3:28422513-28422514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66815845	chr3:28422517-28422518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67018647	chr3:28422542-28422543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544055996	chr3:28422552-28422553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563964149	chr3:28422554-28422555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576962485	chr3:28422556-28422557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545797269	chr3:28422558-28422559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559525871	chr3:28422559-28422560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60041322	chr3:28422564-28422565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528153957	chr3:28422570-28422571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548108267	chr3:28422614-28422615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182022089	chr3:28422779-28422780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539599944	chr3:28422799-28422800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530607726	chr3:28422869-28422870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185011177	chr3:28422921-28422922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143972375	chr3:28422927-28422928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188166431	chr3:28422953-28422954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552116435	chr3:28422974-28422975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368106423	chr3:28422977-28422978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566059353	chr3:28422996-28422997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553351302	chr3:28423048-28423049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28420800-28433000	Weak transcription	Ovary	ovary

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