Variant report

Variant	nsv10522
Chromosome Location	chr4:69908250-69910068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75398261	chr4:69908263-69908264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372912581	chr4:69908267-69908268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556991717	chr4:69908290-69908291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4600986	chr4:69908300-69908301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539175406	chr4:69908301-69908302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553005969	chr4:69908340-69908341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187779051	chr4:69908348-69908349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141545821	chr4:69908373-69908374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541211955	chr4:69908379-69908380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150975603	chr4:69908420-69908421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192570349	chr4:69908439-69908440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540472869	chr4:69908442-69908443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563545404	chr4:69908461-69908462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577230779	chr4:69908469-69908470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182651418	chr4:69908510-69908511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546000824	chr4:69908574-69908575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572862216	chr4:69908679-69908680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115002981	chr4:69908685-69908686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13140844	chr4:69908707-69908708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs564752037	chr4:69908722-69908723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148393063	chr4:69908729-69908730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568411098	chr4:69908803-69908804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530829580	chr4:69908857-69908858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550853750	chr4:69908865-69908866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149806652	chr4:69908961-69908962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539398271	chr4:69909092-69909093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552827512	chr4:69909150-69909151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566553925	chr4:69909188-69909189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576987241	chr4:69909201-69909202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374276268	chr4:69909225-69909226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73826069	chr4:69909237-69909238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554748174	chr4:69909238-69909239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13146930	chr4:69909243-69909244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561210030	chr4:69909252-69909253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13116752	chr4:69909256-69909257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557601272	chr4:69909346-69909347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187604313	chr4:69909360-69909361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114389303	chr4:69909381-69909382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145613112	chr4:69909463-69909464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573370109	chr4:69909469-69909470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542295343	chr4:69909480-69909481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192907752	chr4:69909506-69909507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13147569	chr4:69909523-69909524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs71641433	chr4:69909532-69909533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13102340	chr4:69909533-69909534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146641583	chr4:69909553-69909554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546573814	chr4:69909557-69909558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114825099	chr4:69909567-69909568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578172008	chr4:69909575-69909576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115587600	chr4:69909578-69909579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69905000-69910000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:69908000-69920200	Weak transcription	Pancreas	Pancrea
3	chr4:69909600-69910400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:69909800-69910400	Enhancers	Liver	Liver
5	chr4:69910000-69910800	Enhancers	Muscle Satellite Cultured Cells	--

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