Variant report

Variant	esv3347193
Chromosome Location	chr2:142395867-142396694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569580282	chr2:142395880-142395881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184017979	chr2:142395890-142395891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13019062	chr2:142395940-142395941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571370209	chr2:142395963-142395964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534046572	chr2:142395967-142395968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567790413	chr2:142395977-142395978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13024134	chr2:142395997-142395998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs386651266	chr2:142396034-142396035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13023988	chr2:142396036-142396037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556139609	chr2:142396054-142396055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576415560	chr2:142396101-142396102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13024689	chr2:142396104-142396105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13024341	chr2:142396116-142396117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13024722	chr2:142396159-142396160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13024735	chr2:142396184-142396185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558810066	chr2:142396190-142396191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13024365	chr2:142396197-142396198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572298910	chr2:142396215-142396216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188813301	chr2:142396218-142396219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13024556	chr2:142396240-142396241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561078145	chr2:142396256-142396257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374072075	chr2:142396274-142396275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370775571	chr2:142396430-142396431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575421551	chr2:142396448-142396449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4377276	chr2:142396450-142396451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201084666	chr2:142396459-142396460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4377277	chr2:142396460-142396461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201970117	chr2:142396463-142396464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199955366	chr2:142396465-142396466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367682199	chr2:142396466-142396467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543408372	chr2:142396476-142396477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562997941	chr2:142396478-142396479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531896609	chr2:142396480-142396481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551528807	chr2:142396482-142396483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368752223	chr2:142396487-142396488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60546119	chr2:142396563-142396564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371661123	chr2:142396564-142396565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76196018	chr2:142396566-142396567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114848651	chr2:142396635-142396636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561428946	chr2:142396643-142396644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142393000-142399800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links