Variant report

Variant	esv3427222
Chromosome Location	chr4:130143129-130143637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201031059	chr4:130143129-130143130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539093615	chr4:130143142-130143143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557094352	chr4:130143160-130143161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569222334	chr4:130143165-130143166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200286394	chr4:130143192-130143193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201360857	chr4:130143197-130143198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202221471	chr4:130143198-130143199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200551706	chr4:130143200-130143201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62650494	chr4:130143202-130143203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549263568	chr4:130143203-130143204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10637904	chr4:130143218-130143219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34258028	chr4:130143219-130143220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368791280	chr4:130143223-130143224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376895297	chr4:130143225-130143226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372081196	chr4:130143229-130143230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370369533	chr4:130143230-130143231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187083586	chr4:130143237-130143238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191965939	chr4:130143255-130143256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183260089	chr4:130143279-130143280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554842328	chr4:130143283-130143284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189070016	chr4:130143286-130143287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556949863	chr4:130143289-130143290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377120090	chr4:130143303-130143304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544905187	chr4:130143305-130143306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193150907	chr4:130143323-130143324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185654963	chr4:130143330-130143331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369255966	chr4:130143333-130143334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376024764	chr4:130143348-130143349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377753244	chr4:130143352-130143353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370942634	chr4:130143353-130143354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544277972	chr4:130143359-130143360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375363760	chr4:130143374-130143375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368379086	chr4:130143378-130143379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371975157	chr4:130143379-130143380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374783679	chr4:130143385-130143386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186781620	chr4:130143400-130143401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374039142	chr4:130143404-130143405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367623598	chr4:130143405-130143406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191202110	chr4:130143426-130143427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60120721	chr4:130143430-130143431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56947700	chr4:130143431-130143432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71304336	chr4:130143434-130143435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543884418	chr4:130143437-130143438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370511186	chr4:130143438-130143439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71304337	chr4:130143451-130143452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551703096	chr4:130143459-130143460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562371320	chr4:130143463-130143464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181969875	chr4:130143471-130143472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554609477	chr4:130143478-130143479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112933118	chr4:130143493-130143494	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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	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
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130140600-130144200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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