Variant report

Variant	nsv967951
Chromosome Location	chr4:118414820-118423864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118320200-118324249..4:118414019-118416561	Hela-S3	cervix:
2	4:118414019-118416561..4:118706981-118715929	Hela-S3	cervix:

Extended variants
information (count: 23 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17866220	chr4:118417603-118417604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562591857	chr4:118417608-118417609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17865358	chr4:118417635-118417636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368701611	chr4:118417642-118417643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78581616	chr4:118417650-118417651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187849081	chr4:118417693-118417694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551319131	chr4:118417696-118417697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548768476	chr4:118417771-118417772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7661125	chr4:118417780-118417781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17866927	chr4:118417807-118417808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547679942	chr4:118417822-118417823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193283230	chr4:118417831-118417832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536270791	chr4:118417868-118417869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184301573	chr4:118417910-118417911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374314927	chr4:118417914-118417915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17869442	chr4:118417933-118417934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188046142	chr4:118417935-118417936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115308020	chr4:118417936-118417937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192524557	chr4:118417941-118417942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542944821	chr4:118417959-118417960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552872451	chr4:118417962-118417963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60175677	chr4:118417969-118417970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7666064	chr4:118417970-118417971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118417600-118418000	Enhancers	Colon Smooth Muscle	Colon

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