Variant report

Variant	esv1973109
Chromosome Location	chr4:124943366-124945342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD50-4	chr4:124945249-124945483	XLOC_004061

Variant related genes	Relation type
CLINT1	miRNA target sites

Extended variants
information (count: 41 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543675536	chr4:124943384-124943385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201479774	chr4:124943419-124943420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147192174	chr4:124943420-124943421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201338023	chr4:124943424-124943425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563355004	chr4:124943430-124943431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369503735	chr4:124943539-124943540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77140192	chr4:124943560-124943561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11316441	chr4:124943567-124943568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77447706	chr4:124943568-124943569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372036453	chr4:124943569-124943570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199649710	chr4:124943574-124943575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397995281	chr4:124943576-124943577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200718083	chr4:124943586-124943587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs33934234	chr4:124943587-124943588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559020278	chr4:124943632-124943633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528116337	chr4:124943660-124943661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547794266	chr4:124943665-124943666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568003421	chr4:124943741-124943742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372528452	chr4:124943828-124943829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531916453	chr4:124943905-124943906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113316993	chr4:124943975-124943976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536558321	chr4:124943978-124943979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550433096	chr4:124943986-124943987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570183245	chr4:124943996-124943997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539231748	chr4:124944052-124944053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559130786	chr4:124944404-124944405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572580011	chr4:124944614-124944615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535071023	chr4:124944727-124944728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554689926	chr4:124944749-124944750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574743197	chr4:124944854-124944855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112503795	chr4:124944855-124944856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563579782	chr4:124945091-124945092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576674975	chr4:124945105-124945106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545584398	chr4:124945106-124945107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4327499	chr4:124945112-124945113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190501073	chr4:124945222-124945223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547846398	chr4:124945279-124945280	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs561562184	chr4:124945305-124945306	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs530504302	chr4:124945320-124945321	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs529319753	chr4:124945321-124945322	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs181749322	chr4:124945336-124945337	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124940400-124946600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:124941400-124945400	Weak transcription	HSMMtube	muscle
3	chr4:124941400-124946200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:124941400-124948200	Weak transcription	Left Ventricle	heart
5	chr4:124941600-124945600	Weak transcription	Stomach Mucosa	stomach
6	chr4:124941600-124946200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:124941600-124949200	Weak transcription	Fetal Lung	lung
8	chr4:124941600-124950400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:124941800-124946000	Weak transcription	Fetal Heart	heart
10	chr4:124942400-124946400	Weak transcription	Aorta	Aorta

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