Variant report

Variant	nsv964145
Chromosome Location	chr4:119356091-119359215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569226192	chr4:119356146-119356147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3894444	chr4:119356168-119356169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201627228	chr4:119356210-119356211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558360341	chr4:119356231-119356232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576850363	chr4:119356250-119356251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539562463	chr4:119356276-119356277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552692508	chr4:119356282-119356283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572753943	chr4:119356288-119356289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3894291	chr4:119356310-119356311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541858230	chr4:119356335-119356336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9684959	chr4:119356343-119356344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561932997	chr4:119356423-119356424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575634879	chr4:119356432-119356433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544402568	chr4:119356511-119356512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564344734	chr4:119356518-119356519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192435340	chr4:119356580-119356581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372164994	chr4:119356581-119356582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547023931	chr4:119356601-119356602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1809576	chr4:119356603-119356604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1809575	chr4:119356607-119356608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183263175	chr4:119356630-119356631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143481176	chr4:119356654-119356655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548987430	chr4:119356662-119356663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3879791	chr4:119356668-119356669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2077648	chr4:119356680-119356681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551674552	chr4:119356721-119356722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187321509	chr4:119356738-119356739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564491378	chr4:119356749-119356750	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119355000-119356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:119356000-119356800	Enhancers	Fetal Muscle Leg	muscle

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