Variant report

Variant	esv3403073
Chromosome Location	chr2:78252594-78254792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7565330	chr2:78252594-78252595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141568848	chr2:78252635-78252636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369966915	chr2:78252645-78252646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72919878	chr2:78252656-78252657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543903391	chr2:78252674-78252675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563753567	chr2:78252683-78252684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577350466	chr2:78252714-78252715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551740952	chr2:78252734-78252735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554857988	chr2:78252742-78252743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571451497	chr2:78252779-78252780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546217579	chr2:78252816-78252817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72919880	chr2:78252828-78252829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528711041	chr2:78252833-78252834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187625151	chr2:78252904-78252905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560513266	chr2:78252930-78252931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529759481	chr2:78252936-78252937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62164372	chr2:78252963-78252964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191691092	chr2:78252999-78253000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538818663	chr2:78253035-78253036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533957139	chr2:78253123-78253124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552236425	chr2:78253157-78253158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565986122	chr2:78253210-78253211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558459243	chr2:78253271-78253272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534877451	chr2:78253280-78253281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183965762	chr2:78253298-78253299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111312510	chr2:78253299-78253300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537182323	chr2:78253317-78253318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138272323	chr2:78253318-78253319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201425577	chr2:78253319-78253320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561880459	chr2:78253334-78253335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113621632	chr2:78253338-78253339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199564272	chr2:78253340-78253341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553250453	chr2:78253358-78253359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573216535	chr2:78253363-78253364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542088278	chr2:78253371-78253372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544379847	chr2:78253372-78253373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147176685	chr2:78253386-78253387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192345812	chr2:78253387-78253388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140397741	chr2:78253391-78253392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563394356	chr2:78253408-78253409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10658463	chr2:78253410-78253411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72429842	chr2:78253411-78253412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574443723	chr2:78253419-78253420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532064323	chr2:78253424-78253425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552361008	chr2:78253425-78253426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542136551	chr2:78253435-78253436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528419886	chr2:78253438-78253439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560377844	chr2:78253450-78253451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182322582	chr2:78253451-78253452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186633959	chr2:78253452-78253453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78243000-78253200	Weak transcription	HepG2	liver
2	chr2:78251800-78254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:78254000-78254200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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