Variant report

Variant	esv3366937
Chromosome Location	chr4:86960548-86960976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537649343	chr4:86960619-86960620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544187917	chr4:86960621-86960622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183835015	chr4:86960626-86960627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533259864	chr4:86960642-86960643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111515049	chr4:86960644-86960645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545263403	chr4:86960655-86960656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370367957	chr4:86960675-86960676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371280718	chr4:86960691-86960692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10034271	chr4:86960741-86960742	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527405206	chr4:86960762-86960763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549028766	chr4:86960798-86960799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567160343	chr4:86960802-86960803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116495200	chr4:86960875-86960876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112689288	chr4:86960877-86960878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573666426	chr4:86960944-86960945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571650896	chr4:86960953-86960954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
lymphocytic leukemia	21291569	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
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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86916800-86985400	Weak transcription	Ovary	ovary
2	chr4:86936000-86975600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:86936400-86990600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:86944600-86963000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:86945400-86963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:86948200-86966600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:86949200-86988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:86950600-86967000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:86954600-86960600	Weak transcription	Left Ventricle	heart
10	chr4:86955000-86964400	Weak transcription	Brain Anterior Caudate	brain
11	chr4:86955000-86966400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:86955000-86985000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:86955200-86962600	Weak transcription	Aorta	Aorta
14	chr4:86955200-86964400	Weak transcription	Brain Substantia Nigra	brain
15	chr4:86955200-86964800	Weak transcription	Brain Angular Gyrus	brain
16	chr4:86955200-86965000	Weak transcription	Right Atrium	heart
17	chr4:86955200-86966600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:86955200-86971000	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:86955200-87003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:86955600-86963000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:86956200-86969600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:86958200-86975600	Weak transcription	Fetal Brain Female	brain
23	chr4:86958400-86992600	Weak transcription	Fetal Kidney	kidney
24	chr4:86958600-86965200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:86959200-86964400	Weak transcription	HSMMtube	muscle
26	chr4:86959600-86963400	Weak transcription	Fetal Lung	lung
27	chr4:86959600-86964600	Weak transcription	HUVEC	blood vessel
28	chr4:86960000-86964600	Weak transcription	Fetal Heart	heart
29	chr4:86960200-86961200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:86960400-86960600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:86960400-86960800	Enhancers	Esophagus	oesophagus
32	chr4:86960400-86961200	Strong transcription	Fetal Stomach	stomach
33	chr4:86960400-86961200	Enhancers	Pancreas	Pancrea
34	chr4:86960600-86961200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:86960600-86961200	Enhancers	Left Ventricle	heart

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