Variant report

Variant	nsv964017
Chromosome Location	chr4:186850141-186851852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10013071	chr4:186850204-186850205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191037693	chr4:186850209-186850210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576642476	chr4:186850225-186850226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114228045	chr4:186850302-186850303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145928727	chr4:186850324-186850325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28753917	chr4:186850325-186850326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533304398	chr4:186850345-186850346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369641656	chr4:186850424-186850425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10013254	chr4:186850429-186850430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182389444	chr4:186850465-186850466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574034307	chr4:186850516-186850517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187161975	chr4:186850538-186850539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549072363	chr4:186850542-186850543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565785173	chr4:186850589-186850590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190479181	chr4:186850644-186850645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572377098	chr4:186850685-186850686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367695815	chr4:186850695-186850696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557776447	chr4:186850707-186850708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142844082	chr4:186850763-186850764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62336484	chr4:186850768-186850769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144447925	chr4:186850775-186850776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540673492	chr4:186850776-186850777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369942177	chr4:186850779-186850780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148394004	chr4:186850783-186850784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573040049	chr4:186850809-186850810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373121011	chr4:186850815-186850816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528311564	chr4:186850830-186850831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111299018	chr4:186850846-186850847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141694939	chr4:186850865-186850866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372635705	chr4:186850875-186850876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545168558	chr4:186850891-186850892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150543910	chr4:186850904-186850905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550015290	chr4:186850909-186850910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563457995	chr4:186850921-186850922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529053849	chr4:186850924-186850925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182973283	chr4:186850968-186850969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139859098	chr4:186850987-186850988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534759281	chr4:186850988-186850989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551071354	chr4:186851032-186851033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571258570	chr4:186851036-186851037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536666508	chr4:186851061-186851062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550221234	chr4:186851062-186851063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76987263	chr4:186851087-186851088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187691194	chr4:186851096-186851097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553196701	chr4:186851128-186851129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529615231	chr4:186851146-186851147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572979025	chr4:186851206-186851207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144446536	chr4:186851209-186851210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146107275	chr4:186851214-186851215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575566820	chr4:186851248-186851249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186843200-186853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:186843600-186853400	Weak transcription	Spleen	Spleen
3	chr4:186847600-186852200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:186847600-186854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:186847600-186864200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:186847800-186872400	Weak transcription	Right Atrium	heart
7	chr4:186849200-186850200	Weak transcription	Fetal Heart	heart
8	chr4:186850000-186850600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:186850200-186850600	Enhancers	Fetal Heart	heart
10	chr4:186850200-186851200	Enhancers	Hela-S3	cervix
11	chr4:186850400-186850600	Enhancers	NH-A	brain
12	chr4:186850600-186852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:186850600-186852600	Weak transcription	NH-A	brain
14	chr4:186850600-186855200	Weak transcription	Fetal Heart	heart

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