Variant report

Variant	esv11786
Chromosome Location	chr4:96701137-96708229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578250832	chr4:96703632-96703633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115485899	chr4:96703640-96703641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111331551	chr4:96703656-96703657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370082459	chr4:96703659-96703660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548735597	chr4:96703700-96703701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529492553	chr4:96703711-96703712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563566712	chr4:96703746-96703747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185400915	chr4:96703838-96703839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190397677	chr4:96703870-96703871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143861084	chr4:96703893-96703894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552491096	chr4:96703895-96703896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570507138	chr4:96703896-96703897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546683832	chr4:96703933-96703934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149789224	chr4:96703955-96703956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568504701	chr4:96703994-96703995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111351162	chr4:96704000-96704001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571183799	chr4:96704056-96704057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72885702	chr4:96704065-96704066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116321594	chr4:96704067-96704068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72887505	chr4:96704082-96704083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536102399	chr4:96704126-96704127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72887506	chr4:96704135-96704136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372139241	chr4:96704141-96704142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72887509	chr4:96704165-96704166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538591790	chr4:96704208-96704209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558601713	chr4:96704214-96704215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572106746	chr4:96704229-96704230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72887510	chr4:96704267-96704268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554216270	chr4:96704280-96704281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142097978	chr4:96704295-96704296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79700116	chr4:96704298-96704299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72887512	chr4:96704300-96704301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373295933	chr4:96704311-96704312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536445574	chr4:96704328-96704329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs893041	chr4:96704333-96704334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs564918338	chr4:96704346-96704347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373342395	chr4:96704364-96704365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76715196	chr4:96704374-96704375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56123654	chr4:96704384-96704385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529855834	chr4:96704413-96704414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7669620	chr4:96704454-96704455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375169116	chr4:96704480-96704481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74761034	chr4:96704491-96704492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563529701	chr4:96704492-96704493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74746502	chr4:96704506-96704507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116225073	chr4:96704509-96704510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72887518	chr4:96704554-96704555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186710833	chr4:96704555-96704556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115157664	chr4:96704591-96704592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72887519	chr4:96704597-96704598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96703600-96705400	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links