Variant report

Variant	nsv967670
Chromosome Location	chr4:85989733-85994729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191634638	chr4:85993682-85993683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553638001	chr4:85993708-85993709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148674316	chr4:85993711-85993712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4129430	chr4:85993738-85993739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35653335	chr4:85993740-85993741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568520427	chr4:85993821-85993822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142142997	chr4:85993822-85993823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151228498	chr4:85993855-85993856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141403773	chr4:85993857-85993858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564217160	chr4:85993861-85993862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573033783	chr4:85993931-85993932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540343033	chr4:85993948-85993949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10516732	chr4:85994019-85994020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145289219	chr4:85994057-85994058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181254428	chr4:85994078-85994079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563641189	chr4:85994124-85994125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370966743	chr4:85994147-85994148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530515760	chr4:85994172-85994173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552231933	chr4:85994179-85994180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570546938	chr4:85994235-85994236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534674459	chr4:85994261-85994262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546698510	chr4:85994296-85994297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568517872	chr4:85994314-85994315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542014098	chr4:85994326-85994327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185615280	chr4:85994372-85994373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116548253	chr4:85994422-85994423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7656709	chr4:85994452-85994453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147884486	chr4:85994492-85994493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539430104	chr4:85994495-85994496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144033813	chr4:85994500-85994501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557694087	chr4:85994525-85994526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572922455	chr4:85994530-85994531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141541713	chr4:85994556-85994557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562221001	chr4:85994575-85994576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150440078	chr4:85994589-85994590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570869018	chr4:85994610-85994611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138187271	chr4:85994676-85994677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563413441	chr4:85994682-85994683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376723524	chr4:85994712-85994713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553581461	chr4:85994716-85994717	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85993600-85995000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:85994000-85994800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:85994400-85995000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links