Variant report

Variant	esv3466425
Chromosome Location	chr4:152988702-152994200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 236 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552103928	chr4:152988723-152988724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61539995	chr4:152988749-152988750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs56364547	chr4:152988871-152988872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577620557	chr4:152988892-152988893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545139032	chr4:152988893-152988894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532653827	chr4:152988898-152988899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540939330	chr4:152988927-152988928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192887188	chr4:152989003-152989004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530496604	chr4:152989025-152989026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549046022	chr4:152989029-152989030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561013019	chr4:152989039-152989040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528394256	chr4:152989079-152989080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546429950	chr4:152989123-152989124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571443457	chr4:152989179-152989180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386680785	chr4:152989180-152989181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56178482	chr4:152989182-152989183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143279416	chr4:152989231-152989232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113879740	chr4:152989235-152989236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573418573	chr4:152989247-152989248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535885188	chr4:152989270-152989271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547866992	chr4:152989279-152989280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57279473	chr4:152989303-152989304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533665049	chr4:152989329-152989330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183124320	chr4:152989363-152989364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544844728	chr4:152989364-152989365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557087384	chr4:152989373-152989374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116304024	chr4:152989386-152989387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542604159	chr4:152989393-152989394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17028532	chr4:152989410-152989411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528346143	chr4:152989454-152989455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4696313	chr4:152989476-152989477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148334631	chr4:152989535-152989536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532154364	chr4:152989594-152989595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17028534	chr4:152989600-152989601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569004371	chr4:152989635-152989636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530145703	chr4:152989691-152989692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188355864	chr4:152989708-152989709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192186288	chr4:152989740-152989741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376954850	chr4:152989771-152989772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34011602	chr4:152989774-152989775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72734212	chr4:152989810-152989811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559180434	chr4:152989816-152989817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62318967	chr4:152989817-152989818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538428549	chr4:152989845-152989846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556804166	chr4:152989902-152989903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575363416	chr4:152989911-152989912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542727873	chr4:152989921-152989922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554234710	chr4:152989922-152989923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35261748	chr4:152989945-152989946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543070328	chr4:152989948-152989949	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152985200-152990000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:152985200-152993400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:152985200-152996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:152986200-152990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:152986400-152989800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:152986600-152989600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:152986600-152993200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:152986800-152998000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:152987200-152989400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:152987600-152989600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:152987600-152989600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:152987600-152990000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:152988000-152989200	Weak transcription	Primary T cells from cord blood	blood
16	chr4:152988000-152989600	Weak transcription	Dnd41	blood
17	chr4:152988200-152989400	Weak transcription	Thymus	Thymus
18	chr4:152988400-152988800	Enhancers	Right Atrium	heart
19	chr4:152988600-152988800	Enhancers	Psoas Muscle	Psoas
20	chr4:152988800-152993600	Weak transcription	Right Atrium	heart
21	chr4:152989200-152992200	Enhancers	Primary T cells from cord blood	blood
22	chr4:152989400-152989600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:152989400-153000400	Enhancers	Thymus	Thymus
24	chr4:152989600-152990000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:152989600-152990400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:152989600-152990600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr4:152989600-152990600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:152989600-152992400	Enhancers	Dnd41	blood
29	chr4:152989800-152990400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr4:152989800-152990400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:152990000-152990400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr4:152990000-152990400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:152990000-152990400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr4:152990000-152990800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr4:152990400-152995000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:152990400-152995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:152990400-152997600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:152990400-152998600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:152990400-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:152990600-152991000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:152990600-152995000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:152990800-152991000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr4:152990800-152992200	Enhancers	Stomach Mucosa	stomach
44	chr4:152990800-152996600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:152991000-152991200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr4:152991200-152995000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:152991400-152992400	Enhancers	Fetal Intestine Large	intestine
48	chr4:152991800-152992200	Enhancers	HepG2	liver
49	chr4:152992200-152995400	Weak transcription	Primary T cells from cord blood	blood
50	chr4:152992400-152993600	Weak transcription	Dnd41	blood

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