Variant report

Variant	esv3414761
Chromosome Location	chr4:69790708-69791268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12650284	chr4:69790761-69790762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114267108	chr4:69790779-69790780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563002265	chr4:69790811-69790812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535392090	chr4:69790847-69790848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114621758	chr4:69790854-69790855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545480906	chr4:69790875-69790876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565081765	chr4:69790876-69790877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373708537	chr4:69790934-69790935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527446885	chr4:69790947-69790948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111588073	chr4:69790983-69790984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547714436	chr4:69791012-69791013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377675663	chr4:69791021-69791022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28398306	chr4:69791084-69791085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183645497	chr4:69791151-69791152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574961925	chr4:69791155-69791156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377753506	chr4:69791173-69791174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369522148	chr4:69791174-69791175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373759652	chr4:69791175-69791176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189240183	chr4:69791207-69791208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114868231	chr4:69791240-69791241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69790600-69792800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:69790600-69793800	Weak transcription	HepG2	liver

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