Variant report

Variant	nsv966366
Chromosome Location	chr4:119342465-119346788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375547403	chr4:119342498-119342499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4103602	chr4:119342527-119342528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555129249	chr4:119342546-119342547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183758205	chr4:119342602-119342603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs36126235	chr4:119342610-119342611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs187657081	chr4:119342611-119342612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190741774	chr4:119342627-119342628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374510548	chr4:119342631-119342632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529564120	chr4:119342660-119342661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182122885	chr4:119342661-119342662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34293869	chr4:119342690-119342691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs186799984	chr4:119342701-119342702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191684615	chr4:119342706-119342707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531855029	chr4:119342731-119342732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377687448	chr4:119342733-119342734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532103096	chr4:119342734-119342735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35733478	chr4:119342747-119342748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551340367	chr4:119342770-119342771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571343351	chr4:119342797-119342798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534212807	chr4:119342805-119342806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553996229	chr4:119342810-119342811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567956647	chr4:119342814-119342815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536411796	chr4:119342815-119342816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556738137	chr4:119342830-119342831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9759625	chr4:119342837-119342838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368156255	chr4:119342854-119342855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36032817	chr4:119342856-119342857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs544355384	chr4:119342883-119342884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372109608	chr4:119342897-119342898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377321436	chr4:119342900-119342901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557775491	chr4:119342909-119342910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577757102	chr4:119342912-119342913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs70941169	chr4:119342913-119342914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188315863	chr4:119342985-119342986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143397962	chr4:119342998-119342999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560450078	chr4:119343031-119343032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529206458	chr4:119343081-119343082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542429663	chr4:119343094-119343095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562732834	chr4:119343157-119343158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373757249	chr4:119343174-119343175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531697950	chr4:119343212-119343213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113848069	chr4:119343239-119343240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551502301	chr4:119343250-119343251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565040670	chr4:119343260-119343261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527639030	chr4:119343339-119343340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112327861	chr4:119343363-119343364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547401743	chr4:119343365-119343366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567834973	chr4:119343403-119343404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536978462	chr4:119343411-119343412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550089254	chr4:119343426-119343427	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
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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119340800-119345400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:119344200-119345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:119345400-119345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:119345400-119345800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:119345400-119345800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:119345400-119345800	Enhancers	Dnd41	blood
7	chr4:119345600-119345800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:119346200-119347000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links