Variant report

Variant	esv3419309
Chromosome Location	chr2:78460344-78464642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78024238	chr2:78460439-78460440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79478731	chr2:78460449-78460450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185973204	chr2:78460494-78460495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572903324	chr2:78460495-78460496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72819096	chr2:78460548-78460549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138641781	chr2:78460573-78460574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530841455	chr2:78460614-78460615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573505719	chr2:78460687-78460688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191194272	chr2:78460718-78460719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564349033	chr2:78460735-78460736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533254672	chr2:78460759-78460760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546719428	chr2:78460779-78460780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566648210	chr2:78460788-78460789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182396473	chr2:78460805-78460806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141908647	chr2:78460843-78460844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556892070	chr2:78460850-78460851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569403814	chr2:78460855-78460856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574980675	chr2:78460884-78460885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542040906	chr2:78460905-78460906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186975535	chr2:78460991-78460992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571843866	chr2:78461033-78461034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150213087	chr2:78461066-78461067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553075131	chr2:78461078-78461079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72819097	chr2:78461082-78461083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575778991	chr2:78461198-78461199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192294358	chr2:78461205-78461206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555402297	chr2:78461206-78461207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575442264	chr2:78461213-78461214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75711674	chr2:78461218-78461219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35983873	chr2:78461267-78461268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182815157	chr2:78461307-78461308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533124201	chr2:78461334-78461335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540055265	chr2:78461347-78461348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200405525	chr2:78461357-78461358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200749489	chr2:78461360-78461361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201332983	chr2:78461368-78461369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201473309	chr2:78461372-78461373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199795743	chr2:78461374-78461375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566539388	chr2:78461375-78461376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113747088	chr2:78461376-78461377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370495789	chr2:78461406-78461407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529349675	chr2:78461463-78461464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193221889	chr2:78461469-78461470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564611988	chr2:78461489-78461490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184350175	chr2:78461593-78461594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116849648	chr2:78461619-78461620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61506315	chr2:78461645-78461646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539920481	chr2:78461695-78461696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187700132	chr2:78461748-78461749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138749375	chr2:78461758-78461759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78459800-78472400	Weak transcription	HepG2	liver
2	chr2:78460800-78462000	Enhancers	Brain Substantia Nigra	brain

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