Variant report

Variant	esv3410206
Chromosome Location	chr4:106740919-106741435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367821660	chr4:106740925-106740926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554803454	chr4:106740960-106740961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188682992	chr4:106740966-106740967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34612682	chr4:106740978-106740979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181152803	chr4:106740987-106740988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59444642	chr4:106741033-106741034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554274388	chr4:106741039-106741040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539718342	chr4:106741047-106741048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577241506	chr4:106741111-106741112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs66778965	chr4:106741143-106741144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11723639	chr4:106741163-106741164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35106258	chr4:106741198-106741199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148173552	chr4:106741219-106741220	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34357239	chr4:106741238-106741239	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544520016	chr4:106741246-106741247	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs561162789	chr4:106741270-106741271	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529736200	chr4:106741281-106741282	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555434691	chr4:106741288-106741289	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185365262	chr4:106741312-106741313	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs373737886	chr4:106741322-106741323	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560222362	chr4:106741342-106741343	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371460342	chr4:106741422-106741423	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs17264527	chr4:106741424-106741425	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106695200-106757000	Weak transcription	Primary B cells from cord blood	blood
2	chr4:106703200-106755600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:106729200-106763400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:106730200-106764200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:106730400-106756400	Weak transcription	Fetal Stomach	stomach
6	chr4:106730400-106757600	Weak transcription	Psoas Muscle	Psoas
7	chr4:106730800-106761800	Weak transcription	HSMM	muscle
8	chr4:106732600-106755800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:106734400-106756400	Weak transcription	Fetal Thymus	thymus
10	chr4:106734800-106746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:106735800-106747800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:106737000-106768600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:106737200-106754200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:106738800-106757200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:106740600-106741600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:106740800-106742200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:106741200-106741800	Active TSS	Stomach Smooth Muscle	stomach
18	chr4:106741200-106742000	Enhancers	Fetal Heart	heart

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