Variant report

Variant	esv3353901
Chromosome Location	chr4:94661529-94663527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183627097	chr4:94661538-94661539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536506800	chr4:94661539-94661540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143540316	chr4:94661628-94661629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188211132	chr4:94661639-94661640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192096793	chr4:94661658-94661659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577383479	chr4:94661728-94661729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557998792	chr4:94661754-94661755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578048779	chr4:94661777-94661778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541576550	chr4:94661785-94661786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540466848	chr4:94661786-94661787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146793935	chr4:94661792-94661793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183867942	chr4:94661817-94661818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553193865	chr4:94661827-94661828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369648371	chr4:94661942-94661943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563179859	chr4:94661963-94661964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187066477	chr4:94661964-94661965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554597759	chr4:94662018-94662019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397962079	chr4:94662031-94662032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564869489	chr4:94662045-94662046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191210949	chr4:94662070-94662071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377512124	chr4:94662097-94662098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536568046	chr4:94662120-94662121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549844090	chr4:94662214-94662215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569911183	chr4:94662231-94662232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537899925	chr4:94662239-94662240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527379582	chr4:94662240-94662241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140518779	chr4:94662319-94662320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61311592	chr4:94662325-94662326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376106965	chr4:94662326-94662327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7679071	chr4:94662352-94662353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577725545	chr4:94662424-94662425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184473104	chr4:94662436-94662437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553959802	chr4:94662521-94662522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573930996	chr4:94662562-94662563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190630948	chr4:94662567-94662568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34831073	chr4:94662607-94662608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563082703	chr4:94662614-94662615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542252731	chr4:94662783-94662784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370134862	chr4:94662872-94662873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182313597	chr4:94662941-94662942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140579467	chr4:94662947-94662948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564850528	chr4:94662963-94662964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374807052	chr4:94662987-94662988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527407034	chr4:94663005-94663006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34316739	chr4:94663076-94663077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547483604	chr4:94663111-94663112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560952748	chr4:94663149-94663150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377464970	chr4:94663161-94663162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529945855	chr4:94663188-94663189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140823293	chr4:94663195-94663196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
Glioma	20126413	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94654400-94669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:94661200-94662000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:94662400-94662800	Enhancers	GM12878-XiMat	blood

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