Variant report

Variant	nsv290008
Chromosome Location	chr4:150265854-150272474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561467183	chr4:150265884-150265885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4376126	chr4:150265928-150265929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193213976	chr4:150265988-150265989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549196994	chr4:150266002-150266003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111497047	chr4:150266003-150266004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555361318	chr4:150266047-150266048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567410095	chr4:150266050-150266051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184415210	chr4:150266105-150266106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532400762	chr4:150266120-150266121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141305519	chr4:150266127-150266128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534693753	chr4:150266128-150266129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145045379	chr4:150266138-150266139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534796211	chr4:150266140-150266141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77763040	chr4:150266181-150266182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567929358	chr4:150266211-150266212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536879268	chr4:150266233-150266234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556951868	chr4:150266337-150266338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35918692	chr4:150266433-150266434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545470111	chr4:150266447-150266448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571233591	chr4:150266472-150266473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552940811	chr4:150266566-150266567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138829357	chr4:150266570-150266571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189348825	chr4:150266571-150266572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148928695	chr4:150266636-150266637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143625907	chr4:150266658-150266659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148063613	chr4:150266663-150266664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544043575	chr4:150266685-150266686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141762741	chr4:150266694-150266695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180789914	chr4:150266707-150266708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374373935	chr4:150266841-150266842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557591116	chr4:150266930-150266931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565758372	chr4:150266952-150266953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528532215	chr4:150267004-150267005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62338877	chr4:150267029-150267030	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568243607	chr4:150267044-150267045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536895049	chr4:150267054-150267055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117169759	chr4:150267107-150267108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184302816	chr4:150267120-150267121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570612629	chr4:150267142-150267143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188650149	chr4:150267194-150267195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573668722	chr4:150267207-150267208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147198471	chr4:150267219-150267220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535473023	chr4:150267281-150267282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555502267	chr4:150267374-150267375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13141927	chr4:150267403-150267404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558546351	chr4:150267423-150267424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57959277	chr4:150267469-150267470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563910631	chr4:150267474-150267475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138793317	chr4:150267498-150267499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62338879	chr4:150267504-150267505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150264600-150267000	Enhancers	NHEK	skin
2	chr4:150264600-150267200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:150264800-150266200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:150264800-150266600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:150264800-150267200	Enhancers	NHDF-Ad	bronchial
6	chr4:150265000-150266200	Enhancers	NH-A	brain
7	chr4:150265000-150266800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:150265200-150266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:150265400-150266200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:150265800-150267000	Enhancers	HMEC	breast
11	chr4:150266000-150266200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:150266200-150266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:150266200-150268400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:150266600-150268600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:150266800-150267000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:150267000-150268400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:150268400-150268600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:150268400-150269200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:150268600-150269000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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