Variant report

Variant	esv3438617
Chromosome Location	chr4:148190710-148192037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 67 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369470440	chr4:148190775-148190776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4835388	chr4:148190801-148190802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193191601	chr4:148190809-148190810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577493263	chr4:148190817-148190818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546071693	chr4:148190881-148190882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115703841	chr4:148190884-148190885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185238563	chr4:148190907-148190908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147864645	chr4:148190912-148190913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561804794	chr4:148190934-148190935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141448169	chr4:148190965-148190966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4835389	chr4:148190997-148190998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570810042	chr4:148191023-148191024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4835390	chr4:148191065-148191066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373157975	chr4:148191105-148191106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552498362	chr4:148191164-148191165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565887294	chr4:148191193-148191194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72949893	chr4:148191229-148191230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554718822	chr4:148191238-148191239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566400020	chr4:148191245-148191246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9995182	chr4:148191249-148191250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537125895	chr4:148191255-148191256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377019913	chr4:148191256-148191257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576762585	chr4:148191257-148191258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569551296	chr4:148191259-148191260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370304561	chr4:148191311-148191312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145318152	chr4:148191321-148191322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541991953	chr4:148191360-148191361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562287107	chr4:148191361-148191362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115078695	chr4:148191362-148191363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537119858	chr4:148191383-148191384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564373014	chr4:148191418-148191419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9995285	chr4:148191419-148191420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368135579	chr4:148191429-148191430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565949630	chr4:148191440-148191441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10018487	chr4:148191458-148191459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548430206	chr4:148191486-148191487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568227957	chr4:148191510-148191511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375682930	chr4:148191515-148191516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536784177	chr4:148191522-148191523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112365351	chr4:148191609-148191610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147640455	chr4:148191650-148191651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9995566	chr4:148191699-148191700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372868941	chr4:148191809-148191810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539005412	chr4:148191881-148191882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113387615	chr4:148191926-148191927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1820829	chr4:148191965-148191966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369935470	chr4:148191968-148191969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542023072	chr4:148191981-148191982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555725228	chr4:148191982-148191983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555183646	chr4:148192027-148192028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
T-cell prolymphocytic leukemia	19278963	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148183000-148205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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