Variant report

Variant	nsv514229
Chromosome Location	chr4:85083008-85086360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17008216	chr4:85083031-85083032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58819667	chr4:85083039-85083040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72660850	chr4:85083053-85083054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527407512	chr4:85083073-85083074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554103811	chr4:85083085-85083086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112738354	chr4:85083103-85083104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192178261	chr4:85083120-85083121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561454343	chr4:85083155-85083156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2141807	chr4:85083229-85083230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2141806	chr4:85083231-85083232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373358703	chr4:85083247-85083248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573261958	chr4:85083257-85083258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs118121228	chr4:85083275-85083276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553045372	chr4:85083352-85083353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149417403	chr4:85083395-85083396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551538128	chr4:85083399-85083400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560055684	chr4:85083400-85083401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566733403	chr4:85083412-85083413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147511776	chr4:85083436-85083437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549457928	chr4:85083475-85083476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556052765	chr4:85083477-85083478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184528477	chr4:85083512-85083513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538238474	chr4:85083548-85083549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550224479	chr4:85083557-85083558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113908282	chr4:85083605-85083606	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs571892667	chr4:85083617-85083618	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs373368817	chr4:85083670-85083671	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs76819884	chr4:85083698-85083699	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs113752168	chr4:85083711-85083712	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs536460898	chr4:85083735-85083736	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs555036112	chr4:85083768-85083769	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs2868877	chr4:85083860-85083861	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs573927725	chr4:85083889-85083890	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs542469393	chr4:85083905-85083906	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs9992688	chr4:85083974-85083975	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371071589	chr4:85083992-85083993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs192605664	chr4:85084004-85084005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544948094	chr4:85084075-85084076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560405825	chr4:85084080-85084081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373054450	chr4:85084104-85084105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147133136	chr4:85084108-85084109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542888543	chr4:85084115-85084116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115237775	chr4:85084133-85084134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373108470	chr4:85084220-85084221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550860037	chr4:85084245-85084246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145311272	chr4:85084369-85084370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184273217	chr4:85084388-85084389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189093159	chr4:85084410-85084411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6843857	chr4:85084417-85084418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532538201	chr4:85084465-85084466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85080400-85084000	Enhancers	Fetal Intestine Small	intestine
2	chr4:85081800-85083400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:85083200-85086400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:85083400-85083600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:85083400-85084000	Enhancers	Fetal Intestine Large	intestine
6	chr4:85083600-85084000	Bivalent Enhancer	Dnd41	blood
7	chr4:85085000-85085400	Enhancers	Fetal Lung	lung

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