Variant report

Variant	esv3330641
Chromosome Location	chr5:164762774-164764822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191510384	chr5:164762775-164762776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558081026	chr5:164762840-164762841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139657387	chr5:164762912-164762913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112573766	chr5:164763003-164763004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35121201	chr5:164763004-164763005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58627843	chr5:164763006-164763007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149335110	chr5:164763007-164763008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145316212	chr5:164763042-164763043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183500053	chr5:164763059-164763060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11135366	chr5:164763068-164763069	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11135367	chr5:164763074-164763075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1157640	chr5:164763076-164763077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11738400	chr5:164763121-164763122	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565187288	chr5:164763127-164763128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372087333	chr5:164763133-164763134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558279706	chr5:164763169-164763170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577022836	chr5:164763171-164763172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541359076	chr5:164763172-164763173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114635066	chr5:164763189-164763190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574721535	chr5:164763196-164763197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147636032	chr5:164763238-164763239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187977322	chr5:164763253-164763254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17075345	chr5:164763271-164763272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375621072	chr5:164763313-164763314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536855464	chr5:164763327-164763328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192405665	chr5:164763394-164763395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112256743	chr5:164763409-164763410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34676577	chr5:164763448-164763449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375200384	chr5:164763449-164763450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368855689	chr5:164763450-164763451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370840276	chr5:164763451-164763452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183830555	chr5:164763466-164763467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376855421	chr5:164763486-164763487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530275391	chr5:164763497-164763498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547970932	chr5:164763505-164763506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139608525	chr5:164763511-164763512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371154954	chr5:164763512-164763513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375415349	chr5:164763516-164763517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570368178	chr5:164763526-164763527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371893036	chr5:164763542-164763543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368606380	chr5:164763555-164763556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574683284	chr5:164763571-164763572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553561397	chr5:164763575-164763576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187443769	chr5:164763594-164763595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564410455	chr5:164763633-164763634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576454250	chr5:164763656-164763657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543568005	chr5:164763744-164763745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565264894	chr5:164763745-164763746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568062904	chr5:164763758-164763759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10075514	chr5:164763768-164763769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164757600-164763000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:164761800-164769000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:164762200-164763200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:164762200-164763200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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