Variant report

Variant	nsv964315
Chromosome Location	chr4:132161941-132175043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 75 )

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	rs182325822	chr4:132167429-132167430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28605768	chr4:132167432-132167433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs79319713	chr4:132167440-132167441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116742051	chr4:132167459-132167460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576418781	chr4:132167463-132167464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7661661	chr4:132167492-132167493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150083107	chr4:132167494-132167495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28501108	chr4:132167497-132167498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536275470	chr4:132167511-132167512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138500183	chr4:132167519-132167520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187404841	chr4:132167528-132167529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371257589	chr4:132167549-132167550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538833590	chr4:132167565-132167566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558738660	chr4:132167605-132167606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549104454	chr4:132167607-132167608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75152483	chr4:132167612-132167613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111715008	chr4:132167671-132167672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574718326	chr4:132167672-132167673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182937935	chr4:132167723-132167724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186708579	chr4:132167730-132167731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36073654	chr4:132167757-132167758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141630538	chr4:132167764-132167765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34150207	chr4:132167771-132167772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151030701	chr4:132169651-132169652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555601167	chr4:132169704-132169705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373643147	chr4:132169716-132169717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17051165	chr4:132169728-132169729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6855567	chr4:132169789-132169790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs200087395	chr4:132169858-132169859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144711973	chr4:132169862-132169863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377438935	chr4:132169866-132169867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142202187	chr4:132169908-132169909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374477749	chr4:132169909-132169910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188083608	chr4:132169916-132169917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554865634	chr4:132169941-132169942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147933290	chr4:132169943-132169944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141704444	chr4:132169949-132169950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561669996	chr4:132169950-132169951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115755640	chr4:132169968-132169969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560806783	chr4:132169999-132170000	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132167400-132167800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:132169600-132170000	Enhancers	Dnd41	blood

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