Variant report

Variant	esv3360790
Chromosome Location	chr4:82196128-82197976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199810035	chr4:82196158-82196159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553660330	chr4:82196162-82196163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573399649	chr4:82196164-82196165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75459608	chr4:82196175-82196176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546469244	chr4:82196197-82196198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565019753	chr4:82196234-82196235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79064826	chr4:82196251-82196252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182914030	chr4:82196306-82196307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560553882	chr4:82196344-82196345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188765014	chr4:82196396-82196397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542417530	chr4:82196398-82196399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537135865	chr4:82196424-82196425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78834758	chr4:82196437-82196438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532367260	chr4:82196456-82196457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192893750	chr4:82196477-82196478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145370078	chr4:82196485-82196486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142524425	chr4:82196543-82196544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185844829	chr4:82196556-82196557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567671676	chr4:82196558-82196559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28850052	chr4:82196562-82196563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28811578	chr4:82196581-82196582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573436838	chr4:82196635-82196636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545616312	chr4:82196648-82196649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558882547	chr4:82196688-82196689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527342131	chr4:82196711-82196712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189500996	chr4:82196776-82196777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376039469	chr4:82196783-82196784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540675296	chr4:82196791-82196792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536931065	chr4:82196804-82196805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560616220	chr4:82196811-82196812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574118709	chr4:82196885-82196886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377677194	chr4:82196890-82196891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370559326	chr4:82196892-82196893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375424168	chr4:82196895-82196896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377379509	chr4:82196896-82196897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370227979	chr4:82196910-82196911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375385116	chr4:82196919-82196920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368730827	chr4:82196920-82196921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372326076	chr4:82196931-82196932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550198309	chr4:82196940-82196941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374242122	chr4:82196947-82196948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368467664	chr4:82196969-82196970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548300322	chr4:82196976-82196977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556683969	chr4:82196978-82196979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539823288	chr4:82197072-82197073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560434462	chr4:82197093-82197094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532298959	chr4:82197109-82197110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192430872	chr4:82197160-82197161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562543343	chr4:82197172-82197173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183855317	chr4:82197174-82197175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82193800-82203200	Weak transcription	Fetal Intestine Small	intestine

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