Variant report

Variant	esv3376670
Chromosome Location	chr5:59565291-59567158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576676398	chr5:59565312-59565313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548817503	chr5:59565325-59565326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112145400	chr5:59565362-59565363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113428981	chr5:59565373-59565374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558650344	chr5:59565378-59565379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11743928	chr5:59565423-59565424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115170313	chr5:59565560-59565561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569676284	chr5:59565621-59565622	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538544247	chr5:59565637-59565638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558843746	chr5:59565666-59565667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565858523	chr5:59565705-59565706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534474243	chr5:59565716-59565717	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554349873	chr5:59565720-59565721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182984787	chr5:59565731-59565732	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs56354371	chr5:59565745-59565746	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs558443584	chr5:59565776-59565777	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374424102	chr5:59565784-59565785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577113252	chr5:59565787-59565788	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188736582	chr5:59565810-59565811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs193296922	chr5:59565858-59565859	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs369873731	chr5:59565878-59565879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577202929	chr5:59565918-59565919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546156783	chr5:59565951-59565952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183238054	chr5:59565966-59565967	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs541026562	chr5:59565999-59566000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542397175	chr5:59566017-59566018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559291880	chr5:59566031-59566032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138544473	chr5:59566048-59566049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377356230	chr5:59566106-59566107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562315288	chr5:59566108-59566109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12523473	chr5:59566119-59566120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs549939121	chr5:59566130-59566131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562730755	chr5:59566146-59566147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114473537	chr5:59566154-59566155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74815563	chr5:59566155-59566156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187226033	chr5:59566158-59566159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565924075	chr5:59566198-59566199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370094882	chr5:59566207-59566208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534605138	chr5:59566269-59566270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192152050	chr5:59566298-59566299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111250165	chr5:59566490-59566491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537132864	chr5:59566514-59566515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557454686	chr5:59566526-59566527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112971462	chr5:59566547-59566548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577288315	chr5:59566570-59566571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539781400	chr5:59566571-59566572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34762325	chr5:59566572-59566573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573575039	chr5:59566614-59566615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76499295	chr5:59566643-59566644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542585933	chr5:59566690-59566691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59559600-59584800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59561600-59576600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:59562000-59565800	Weak transcription	Gastric	stomach
4	chr5:59562400-59565600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:59564000-59565600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:59564200-59565600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:59565400-59567400	Weak transcription	Aorta	Aorta
8	chr5:59565600-59566000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:59565600-59566000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:59565600-59569600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:59565800-59566000	Enhancers	Gastric	stomach
12	chr5:59566000-59566200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:59566000-59567400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:59566200-59567200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:59567000-59567400	Enhancers	Fetal Brain Male	brain

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