Variant report

Variant	esv3468176
Chromosome Location	chr4:152990312-152993950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192677949	chr4:152990314-152990315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552326686	chr4:152990315-152990316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571118553	chr4:152990336-152990337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34927704	chr4:152990352-152990353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145764340	chr4:152990357-152990358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138413769	chr4:152990365-152990366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568685035	chr4:152990387-152990388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535704982	chr4:152990390-152990391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544569979	chr4:152990429-152990430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562877442	chr4:152990458-152990459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554628168	chr4:152990508-152990509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572899025	chr4:152990509-152990510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530072693	chr4:152990523-152990524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs67298257	chr4:152990524-152990525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs143017594	chr4:152990539-152990540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544123569	chr4:152990593-152990594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562309951	chr4:152990594-152990595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563565668	chr4:152990603-152990604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184298448	chr4:152990612-152990613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190120799	chr4:152990617-152990618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532924131	chr4:152990624-152990625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566149103	chr4:152990630-152990631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527358194	chr4:152990635-152990636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34961631	chr4:152990636-152990637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11940799	chr4:152990668-152990669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570552264	chr4:152990711-152990712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532006910	chr4:152990733-152990734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71596270	chr4:152990741-152990742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34280209	chr4:152990742-152990743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181207074	chr4:152990811-152990812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570542213	chr4:152990813-152990814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568799193	chr4:152990828-152990829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538075514	chr4:152990829-152990830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150702898	chr4:152990867-152990868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556160200	chr4:152990880-152990881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77955452	chr4:152990900-152990901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566524460	chr4:152990908-152990909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs137900695	chr4:152990948-152990949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149464820	chr4:152991013-152991014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116527665	chr4:152991044-152991045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11724208	chr4:152991055-152991056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs71618394	chr4:152991094-152991095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17028536	chr4:152991095-152991096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559049366	chr4:152991104-152991105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114097162	chr4:152991151-152991152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34059168	chr4:152991160-152991161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114786923	chr4:152991161-152991162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17028537	chr4:152991175-152991176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143943692	chr4:152991195-152991196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140364607	chr4:152991219-152991220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152985200-152993400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:152985200-152996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:152986600-152993200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:152986800-152998000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:152988800-152993600	Weak transcription	Right Atrium	heart
8	chr4:152989200-152992200	Enhancers	Primary T cells from cord blood	blood
9	chr4:152989400-153000400	Enhancers	Thymus	Thymus
10	chr4:152989600-152990400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:152989600-152990600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:152989600-152990600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr4:152989600-152992400	Enhancers	Dnd41	blood
14	chr4:152989800-152990400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr4:152989800-152990400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:152990000-152990400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr4:152990000-152990400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:152990000-152990400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:152990000-152990800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:152990400-152995000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:152990400-152995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:152990400-152997600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:152990400-152998600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:152990400-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:152990600-152991000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:152990600-152995000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:152990800-152991000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:152990800-152992200	Enhancers	Stomach Mucosa	stomach
29	chr4:152990800-152996600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:152991000-152991200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr4:152991200-152995000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:152991400-152992400	Enhancers	Fetal Intestine Large	intestine
33	chr4:152991800-152992200	Enhancers	HepG2	liver
34	chr4:152992200-152995400	Weak transcription	Primary T cells from cord blood	blood
35	chr4:152992400-152993600	Weak transcription	Dnd41	blood
36	chr4:152992800-152993400	Enhancers	HSMMtube	muscle
37	chr4:152992800-152994000	Enhancers	Right Ventricle	heart
38	chr4:152992800-152994600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:152992800-152995200	Enhancers	Left Ventricle	heart
40	chr4:152992800-152996200	Enhancers	Fetal Heart	heart
41	chr4:152993000-152993200	Enhancers	Lung	lung
42	chr4:152993000-152993400	Enhancers	HSMM	muscle
43	chr4:152993000-152993600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:152993000-152993800	Enhancers	Fetal Kidney	kidney
45	chr4:152993000-152996800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr4:152993200-152993600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:152993200-152993800	Enhancers	Brain Anterior Caudate	brain
48	chr4:152993200-152993800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr4:152993200-152995200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:152993200-152995200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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