Variant report

Variant	nsv965454
Chromosome Location	chr4:62468858-62469690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17239087	chr4:62468873-62468874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377705785	chr4:62468904-62468905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113027803	chr4:62468933-62468934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537745288	chr4:62468950-62468951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6820887	chr4:62469099-62469100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191175063	chr4:62469130-62469131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572535594	chr4:62469136-62469137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184055275	chr4:62469148-62469149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527643606	chr4:62469191-62469192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540578142	chr4:62469227-62469228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555476539	chr4:62469312-62469313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574113597	chr4:62469335-62469336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544908724	chr4:62469357-62469358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12642140	chr4:62469361-62469362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34997041	chr4:62469446-62469447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151175768	chr4:62469447-62469448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576283997	chr4:62469450-62469451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533537308	chr4:62469524-62469525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561772737	chr4:62469582-62469583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545276091	chr4:62469587-62469588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377377436	chr4:62469618-62469619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78338465	chr4:62469638-62469639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527386014	chr4:62469651-62469652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80151236	chr4:62469664-62469665	Enhancers 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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62460400-62473400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:62461200-62478000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:62461600-62473600	Weak transcription	Fetal Stomach	stomach
4	chr4:62465600-62469400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:62468000-62469000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:62468200-62469000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:62468200-62469000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:62468200-62469200	Enhancers	Fetal Lung	lung
9	chr4:62468400-62476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:62469200-62473400	Weak transcription	Fetal Lung	lung
11	chr4:62469400-62470000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:62469600-62472800	Enhancers	Primary monocytes fromperipheralblood	blood

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