Variant report

Variant	esv3361417
Chromosome Location	chr4:81424703-81427426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150548235	chr4:81424707-81424708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139510786	chr4:81424709-81424710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371034626	chr4:81424727-81424728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182442530	chr4:81424753-81424754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541532479	chr4:81424891-81424892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572825424	chr4:81424894-81424895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564542259	chr4:81424913-81424914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558226628	chr4:81424947-81424948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141567220	chr4:81424957-81424958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146176655	chr4:81425019-81425020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554882791	chr4:81425053-81425054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533157109	chr4:81425084-81425085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1908549	chr4:81425139-81425140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112861838	chr4:81425142-81425143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544122668	chr4:81425169-81425170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574818274	chr4:81425241-81425242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563800363	chr4:81425244-81425245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139066571	chr4:81425256-81425257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560410870	chr4:81425267-81425268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528529840	chr4:81425279-81425280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186932415	chr4:81425324-81425325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144526177	chr4:81425335-81425336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530928571	chr4:81425336-81425337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550587715	chr4:81425345-81425346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567586667	chr4:81425394-81425395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530350944	chr4:81425423-81425424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546747263	chr4:81425442-81425443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77646664	chr4:81425444-81425445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529461984	chr4:81425450-81425451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1908550	chr4:81425492-81425493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565440384	chr4:81425513-81425514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551464182	chr4:81425539-81425540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551055477	chr4:81425595-81425596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563704248	chr4:81425657-81425658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531164000	chr4:81425659-81425660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57743936	chr4:81425660-81425661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59497228	chr4:81425688-81425689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192245355	chr4:81425814-81425815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554618655	chr4:81425856-81425857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574755870	chr4:81425864-81425865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540535880	chr4:81425909-81425910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12648193	chr4:81426018-81426019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185262194	chr4:81426137-81426138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6829720	chr4:81426172-81426173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565356540	chr4:81426197-81426198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36059719	chr4:81426203-81426204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549250930	chr4:81426287-81426288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201027582	chr4:81426289-81426290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35406849	chr4:81426290-81426291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35402113	chr4:81426291-81426292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81417600-81428800	Weak transcription	NHDF-Ad	bronchial
2	chr4:81422400-81429800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:81423200-81428800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:81424000-81429800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:81424200-81426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:81424200-81427600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:81424200-81429800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:81424200-81430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:81424400-81427800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:81424600-81427600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:81424600-81427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:81424600-81428200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:81426600-81426800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:81426800-81427400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:81427400-81428000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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