Variant report

Variant	nsv10565
Chromosome Location	chr4:132434274-132436802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562263591	chr4:132435432-132435433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184896316	chr4:132435551-132435552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191022665	chr4:132435634-132435635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568242371	chr4:132435635-132435636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55733408	chr4:132435663-132435664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs55680923	chr4:132435711-132435712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112234493	chr4:132435722-132435723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182731308	chr4:132435755-132435756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556565239	chr4:132435775-132435776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533167784	chr4:132435789-132435790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187330420	chr4:132435817-132435818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1511503	chr4:132435838-132435839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111291883	chr4:132435851-132435852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144105021	chr4:132435857-132435858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572587791	chr4:132435869-132435870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534502461	chr4:132435871-132435872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535018171	chr4:132435872-132435873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112364087	chr4:132435882-132435883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532266787	chr4:132435884-132435885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553182015	chr4:132435886-132435887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192061689	chr4:132435902-132435903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539766055	chr4:132435919-132435920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369769083	chr4:132435925-132435926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182945110	chr4:132435985-132435986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545409802	chr4:132436013-132436014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535305289	chr4:132436035-132436036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562458584	chr4:132436074-132436075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146478168	chr4:132436125-132436126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541900772	chr4:132436142-132436143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187577979	chr4:132436173-132436174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527462190	chr4:132436185-132436186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77082351	chr4:132436197-132436198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143201807	chr4:132436244-132436245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533225783	chr4:132436276-132436277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1397860	chr4:132436283-132436284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115244424	chr4:132436323-132436324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535613470	chr4:132436338-132436339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374098381	chr4:132436350-132436351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1397861	chr4:132436391-132436392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs556990679	chr4:132436404-132436405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1397862	chr4:132436424-132436425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113724965	chr4:132436493-132436494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191649235	chr4:132436505-132436506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557896400	chr4:132436510-132436511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75284452	chr4:132436566-132436567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1397863	chr4:132436590-132436591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555928889	chr4:132436593-132436594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76704869	chr4:132436622-132436623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368205072	chr4:132436657-132436658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550502404	chr4:132436713-132436714	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132435400-132436200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr4:132435600-132436200	Enhancers	Dnd41	blood
3	chr4:132436200-132436600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:132436600-132437600	Enhancers	Pancreatic Islets	Pancreatic Islet

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