Variant report

Variant	esv3422020
Chromosome Location	chr4:56059395-56063993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545592602	chr4:56059425-56059426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562384814	chr4:56059437-56059438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144672548	chr4:56059444-56059445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147826710	chr4:56059480-56059481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561856338	chr4:56059490-56059491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575830523	chr4:56059491-56059492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530071767	chr4:56059527-56059528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187546523	chr4:56059534-56059535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533341341	chr4:56059561-56059562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77638659	chr4:56059594-56059595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116432010	chr4:56059630-56059631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113404700	chr4:56059716-56059717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531829990	chr4:56059736-56059737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151004961	chr4:56059770-56059771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140742819	chr4:56059778-56059779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533758299	chr4:56059781-56059782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191139409	chr4:56059787-56059788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369927137	chr4:56059815-56059816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569168011	chr4:56059830-56059831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369188901	chr4:56059831-56059832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539108946	chr4:56059832-56059833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150092369	chr4:56059837-56059838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113479293	chr4:56059877-56059878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541675065	chr4:56059942-56059943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555621845	chr4:56059985-56059986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183137106	chr4:56060002-56060003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187812797	chr4:56060010-56060011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191908831	chr4:56060039-56060040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560480073	chr4:56060063-56060064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184339413	chr4:56060083-56060084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558072397	chr4:56060086-56060087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548438782	chr4:56060094-56060095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140292780	chr4:56060133-56060134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145334190	chr4:56060145-56060146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6830995	chr4:56060174-56060175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs111373019	chr4:56060175-56060176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528019067	chr4:56060215-56060216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188833561	chr4:56060217-56060218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571757377	chr4:56060306-56060307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192669808	chr4:56060334-56060335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2899026	chr4:56060360-56060361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557249461	chr4:56060368-56060369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144858097	chr4:56060398-56060399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542692982	chr4:56060400-56060401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185031231	chr4:56060435-56060436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148170750	chr4:56060441-56060442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555321046	chr4:56060455-56060456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201545504	chr4:56060479-56060480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189096964	chr4:56060557-56060558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541280310	chr4:56060567-56060568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56055000-56060800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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