Variant report

Variant	nsv2903
Chromosome Location	chr2:125891467-125936267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 283 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202178597	chr2:125924201-125924202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138939149	chr2:125924214-125924215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181951165	chr2:125924227-125924228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374412553	chr2:125924229-125924230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12999049	chr2:125924242-125924243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566332134	chr2:125924246-125924247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561765945	chr2:125924263-125924264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185250948	chr2:125924291-125924292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139204344	chr2:125924308-125924309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188112083	chr2:125924334-125924335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13004238	chr2:125924362-125924363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143215458	chr2:125924423-125924424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552378750	chr2:125924449-125924450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4438483	chr2:125924509-125924510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147529182	chr2:125924598-125924599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548476858	chr2:125924725-125924726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181305238	chr2:125924752-125924753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113681427	chr2:125924759-125924760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570153270	chr2:125924781-125924782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537174449	chr2:125924796-125924797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533515296	chr2:125924803-125924804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12711702	chr2:125924841-125924842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537490014	chr2:125924843-125924844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140210304	chr2:125925005-125925006	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556352528	chr2:125925059-125925060	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185379201	chr2:125925088-125925089	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142028346	chr2:125925104-125925105	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565215740	chr2:125925126-125925127	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191057768	chr2:125925141-125925142	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376741963	chr2:125925221-125925222	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369831171	chr2:125925328-125925329	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376689574	chr2:125925334-125925335	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139722992	chr2:125925335-125925336	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541062788	chr2:125925388-125925389	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149795471	chr2:125925394-125925395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183727092	chr2:125925442-125925443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186564298	chr2:125925446-125925447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543903003	chr2:125925504-125925505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192298207	chr2:125925515-125925516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558762182	chr2:125925521-125925522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548514601	chr2:125925608-125925609	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568257094	chr2:125925616-125925617	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527330400	chr2:125925643-125925644	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72967803	chr2:125925653-125925654	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551859461	chr2:125925684-125925685	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139252849	chr2:125925686-125925687	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539166660	chr2:125925696-125925697	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555791183	chr2:125925777-125925778	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537048329	chr2:125925780-125925781	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569924147	chr2:125925819-125925820	Enhancers Flanking Active TSS	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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125924200-125925000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:125924400-125925000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:125924600-125925800	Enhancers	Osteobl	bone
4	chr2:125924800-125926000	Enhancers	NHLF	lung
5	chr2:125925000-125925400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:125925000-125925400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:125925000-125925400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:125925000-125927000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:125925200-125926000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:125925200-125926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:125925400-125925600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:125925400-125925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:125925400-125927800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:125925600-125926200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:125925800-125927000	Flanking Active TSS	Osteobl	bone
16	chr2:125925800-125927200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:125926000-125926800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:125926200-125927000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:125926800-125927000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:125927000-125927800	Enhancers	Osteobl	bone
21	chr2:125929600-125929800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:125932600-125933400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:125932800-125933600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:125933200-125933400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:125933200-125933600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:125933200-125933600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:125933200-125933600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:125933600-125943400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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