Variant report

Variant	esv3377134
Chromosome Location	chr3:20408373-20410921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568213719	chr3:20408462-20408463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554592459	chr3:20408465-20408466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535658251	chr3:20408498-20408499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550465644	chr3:20408506-20408507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569015569	chr3:20408511-20408512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567065676	chr3:20408560-20408561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539575506	chr3:20408580-20408581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557829113	chr3:20408582-20408583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375052536	chr3:20408589-20408590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566612335	chr3:20408603-20408604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568365756	chr3:20408625-20408626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572944904	chr3:20408627-20408628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533895647	chr3:20408637-20408638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536913232	chr3:20408643-20408644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375125839	chr3:20408662-20408663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556029554	chr3:20408663-20408664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137999349	chr3:20408683-20408684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6785089	chr3:20408721-20408722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562976733	chr3:20408723-20408724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369779038	chr3:20408772-20408773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115378019	chr3:20408789-20408790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564127521	chr3:20408797-20408798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528093455	chr3:20408866-20408867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6800376	chr3:20408873-20408874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562030138	chr3:20408876-20408877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150087522	chr3:20408886-20408887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373358667	chr3:20408887-20408888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569005505	chr3:20408905-20408906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532953310	chr3:20408933-20408934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184151276	chr3:20408986-20408987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566583269	chr3:20408992-20408993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533955778	chr3:20409008-20409009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188850487	chr3:20409009-20409010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12495745	chr3:20409024-20409025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192232586	chr3:20409031-20409032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538201210	chr3:20409032-20409033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138357256	chr3:20409062-20409063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578222444	chr3:20409096-20409097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184386166	chr3:20409100-20409101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9836629	chr3:20409145-20409146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149643219	chr3:20409152-20409153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540306058	chr3:20409158-20409159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561557064	chr3:20409172-20409173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189211333	chr3:20409174-20409175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182400417	chr3:20409194-20409195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145144643	chr3:20409220-20409221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532963350	chr3:20409249-20409250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185781435	chr3:20409250-20409251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9836812	chr3:20409267-20409268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189654400	chr3:20409278-20409279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20408200-20415600	Weak transcription	Fetal Intestine Small	intestine
2	chr3:20410800-20411000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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