Variant report

Variant	nsv964149
Chromosome Location	chr4:132767269-132772146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79166500	chr4:132769227-132769228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75754425	chr4:132769252-132769253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558129497	chr4:132769357-132769358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs164403	chr4:132769368-132769369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186563900	chr4:132769372-132769373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140634744	chr4:132769379-132769380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191295868	chr4:132769380-132769381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs164402	chr4:132769382-132769383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200813168	chr4:132769415-132769416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115996640	chr4:132769419-132769420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184553308	chr4:132769426-132769427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201984997	chr4:132769456-132769457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545295572	chr4:132769496-132769497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200617007	chr4:132769523-132769524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565278558	chr4:132769524-132769525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531094856	chr4:132769588-132769589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377421545	chr4:132769638-132769639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138440672	chr4:132769653-132769654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141336777	chr4:132769706-132769707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549090201	chr4:132769714-132769715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1849321	chr4:132769744-132769745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534643936	chr4:132769821-132769822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558041707	chr4:132769838-132769839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571843864	chr4:132769843-132769844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537218490	chr4:132769914-132769915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556890326	chr4:132769915-132769916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573817050	chr4:132769954-132769955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576935711	chr4:132770032-132770033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542736496	chr4:132770035-132770036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553100626	chr4:132770046-132770047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35494975	chr4:132770093-132770094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150238785	chr4:132770157-132770158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565192785	chr4:132770163-132770164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531133122	chr4:132770183-132770184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202194497	chr4:132770184-132770185	Enhancers	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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132769200-132770200	Enhancers	Dnd41	blood

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