Variant report

Variant	nsv519845
Chromosome Location	chr4:92880124-92883522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1602073	chr4:92880124-92880125	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551942983	chr4:92880130-92880131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565474944	chr4:92880148-92880149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150471085	chr4:92880152-92880153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370925977	chr4:92880167-92880168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371283758	chr4:92880194-92880195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527868704	chr4:92880215-92880216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547828086	chr4:92880220-92880221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567624671	chr4:92880238-92880239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182379100	chr4:92880288-92880289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57187016	chr4:92880296-92880297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187869430	chr4:92880328-92880329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537677323	chr4:92880378-92880379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115992413	chr4:92880421-92880422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577884539	chr4:92880422-92880423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533805345	chr4:92880475-92880476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553362481	chr4:92880487-92880488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573255816	chr4:92880491-92880492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542214201	chr4:92880543-92880544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2904396	chr4:92880544-92880545	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576072212	chr4:92880645-92880646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567757234	chr4:92880701-92880702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545300962	chr4:92880722-92880723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192506224	chr4:92880737-92880738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528000710	chr4:92880746-92880747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28834203	chr4:92880764-92880765	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561563091	chr4:92880775-92880776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78984974	chr4:92880838-92880839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530155346	chr4:92880943-92880944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370620013	chr4:92880966-92880967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550181488	chr4:92880982-92880983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570077127	chr4:92881026-92881027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117339205	chr4:92881050-92881051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551304615	chr4:92881054-92881055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184664838	chr4:92881064-92881065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142529183	chr4:92881075-92881076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553700043	chr4:92881102-92881103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573589410	chr4:92881104-92881105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575427274	chr4:92881105-92881106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11947187	chr4:92881118-92881119	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs62311143	chr4:92881133-92881134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189457931	chr4:92881146-92881147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544817580	chr4:92881191-92881192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545046377	chr4:92881195-92881196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558886749	chr4:92881198-92881199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572915792	chr4:92881240-92881241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372146065	chr4:92881256-92881257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568293945	chr4:92881289-92881290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116459928	chr4:92881351-92881352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191996699	chr4:92881357-92881358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92879000-92880200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:92879000-92880600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:92879000-92880800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:92879000-92881000	Enhancers	Brain Germinal Matrix	brain
5	chr4:92879600-92880200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:92879600-92880200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:92879600-92884800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:92879800-92880200	Weak transcription	Fetal Brain Male	brain
9	chr4:92880000-92880200	Enhancers	Fetal Muscle Leg	muscle
10	chr4:92880200-92880400	Enhancers	Fetal Brain Male	brain
11	chr4:92880200-92884600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:92880400-92884200	Weak transcription	Fetal Brain Male	brain
13	chr4:92882800-92883200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:92882800-92883400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:92883000-92883200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:92883000-92883400	Enhancers	Ovary	ovary
17	chr4:92883000-92883800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:92883200-92884200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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