Variant report

Variant	nsv960984
Chromosome Location	chr2:126727835-126729741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111508432	chr2:126727877-126727878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145750991	chr2:126727904-126727905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184585293	chr2:126727910-126727911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17013250	chr2:126727922-126727923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147779050	chr2:126727923-126727924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141149889	chr2:126727925-126727926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146948591	chr2:126727935-126727936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137987740	chr2:126727958-126727959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557068074	chr2:126727967-126727968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17013251	chr2:126728027-126728028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542277088	chr2:126728041-126728042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149391892	chr2:126728061-126728062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572475034	chr2:126728079-126728080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545309861	chr2:126728091-126728092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565420992	chr2:126728149-126728150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17013254	chr2:126728174-126728175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550891508	chr2:126728203-126728204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561472459	chr2:126728230-126728231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530226687	chr2:126728246-126728247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547089317	chr2:126728252-126728253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1455608	chr2:126728274-126728275	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567617446	chr2:126728284-126728285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143790521	chr2:126728329-126728330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148165183	chr2:126728386-126728387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571450485	chr2:126728388-126728389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574407799	chr2:126728415-126728416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537293612	chr2:126728426-126728427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556888483	chr2:126728471-126728472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573453632	chr2:126728534-126728535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17689012	chr2:126728541-126728542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142028350	chr2:126728587-126728588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188969562	chr2:126728606-126728607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182015807	chr2:126728613-126728614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146158674	chr2:126728615-126728616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187337817	chr2:126728618-126728619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544848244	chr2:126728632-126728633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114694537	chr2:126728640-126728641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140005147	chr2:126728687-126728688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190949765	chr2:126728742-126728743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560547108	chr2:126728780-126728781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532600724	chr2:126728793-126728794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551631502	chr2:126728861-126728862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1902240	chr2:126728887-126728888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569194961	chr2:126728910-126728911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536951685	chr2:126728928-126728929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550821725	chr2:126728976-126728977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72845360	chr2:126729007-126729008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141964498	chr2:126729019-126729020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536020946	chr2:126729020-126729021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180887149	chr2:126729064-126729065	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126725800-126728200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:126726000-126728800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:126726200-126728600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:126727400-126728200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:126728200-126729600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:126728200-126730000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:126728600-126729200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:126728800-126729400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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