Variant report

Variant	nsv978947
Chromosome Location	chr2:125239714-125247227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 307 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574033975	chr2:125239745-125239746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542667296	chr2:125239748-125239749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75916553	chr2:125239751-125239752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528784844	chr2:125239754-125239755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17011550	chr2:125239760-125239761	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150743227	chr2:125239762-125239763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138000769	chr2:125239797-125239798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551105780	chr2:125239799-125239800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569659267	chr2:125239816-125239817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149398052	chr2:125239844-125239845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146371306	chr2:125239908-125239909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139740812	chr2:125239911-125239912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534950764	chr2:125239918-125239919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62172592	chr2:125239978-125239979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572991739	chr2:125240001-125240002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558076121	chr2:125240051-125240052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186416554	chr2:125240119-125240120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144516096	chr2:125240182-125240183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545168657	chr2:125240196-125240197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77580589	chr2:125240197-125240198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574068235	chr2:125240210-125240211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146045632	chr2:125240228-125240229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17011555	chr2:125240240-125240241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12464390	chr2:125240243-125240244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191763876	chr2:125240251-125240252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565239511	chr2:125240260-125240261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183619449	chr2:125240283-125240284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531068055	chr2:125240303-125240304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530375329	chr2:125240326-125240327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544494441	chr2:125240382-125240383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561505004	chr2:125240385-125240386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529007269	chr2:125240406-125240407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549047149	chr2:125240407-125240408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565720551	chr2:125240423-125240424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563346450	chr2:125240448-125240449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142293305	chr2:125240472-125240473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151269535	chr2:125240547-125240548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537320486	chr2:125240548-125240549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556902396	chr2:125240572-125240573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567436266	chr2:125240581-125240582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187793966	chr2:125240612-125240613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192305511	chr2:125240630-125240631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529203054	chr2:125240649-125240650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73952986	chr2:125240679-125240680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548466124	chr2:125240766-125240767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558487406	chr2:125240772-125240773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529211258	chr2:125240807-125240808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575554102	chr2:125240819-125240820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550874647	chr2:125240847-125240848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182270140	chr2:125240851-125240852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125234600-125240000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:125238800-125240600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:125239200-125240200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:125239600-125240000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:125239600-125240600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:125239600-125240800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:125239600-125241000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:125239800-125240600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:125239800-125240800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:125240000-125241200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:125240200-125240800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:125240200-125241200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:125240800-125241400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:125240800-125246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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