Variant report

Variant	nsv471813
Chromosome Location	chr4:62283682-62285447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115984260	chr4:62283688-62283689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576588400	chr4:62283699-62283700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142721290	chr4:62283736-62283737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559159929	chr4:62283760-62283761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11940843	chr4:62283801-62283802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7683598	chr4:62283822-62283823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76582898	chr4:62283830-62283831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10428284	chr4:62283836-62283837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541609841	chr4:62283842-62283843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563377967	chr4:62283907-62283908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530654100	chr4:62283933-62283934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545997669	chr4:62283977-62283978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376596557	chr4:62284027-62284028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563912028	chr4:62284047-62284048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528375298	chr4:62284081-62284082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187884377	chr4:62284111-62284112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565778395	chr4:62284114-62284115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192976079	chr4:62284135-62284136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75386907	chr4:62284220-62284221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201919197	chr4:62284237-62284238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570148357	chr4:62284249-62284250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17238982	chr4:62284310-62284311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559196451	chr4:62284344-62284345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11931701	chr4:62284345-62284346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11941072	chr4:62284374-62284375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150861071	chr4:62284389-62284390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536918576	chr4:62284449-62284450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11946870	chr4:62284505-62284506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549021152	chr4:62284518-62284519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556651213	chr4:62284520-62284521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199694037	chr4:62284526-62284527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185124343	chr4:62284548-62284549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545446623	chr4:62284575-62284576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567585160	chr4:62284600-62284601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139340835	chr4:62284623-62284624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10866118	chr4:62284634-62284635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141922042	chr4:62284730-62284731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150041597	chr4:62284766-62284767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188839574	chr4:62284795-62284796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375303740	chr4:62284819-62284820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529140785	chr4:62284844-62284845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192103939	chr4:62284885-62284886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11947948	chr4:62284932-62284933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112279851	chr4:62284998-62284999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141032559	chr4:62285011-62285012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116837661	chr4:62285024-62285025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571101593	chr4:62285035-62285036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184550021	chr4:62285073-62285074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111834959	chr4:62285077-62285078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568754633	chr4:62285112-62285113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
T-cell prolymphocytic leukemia	19278963	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
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62273400-62290400	Weak transcription	Fetal Stomach	stomach
2	chr4:62274200-62288200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:62283000-62289400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:62284200-62289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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