Variant report

Variant	esv3394077
Chromosome Location	chr4:125768360-125768993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125766671..125769138-chr4:125772617..125775217,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376872948	chr4:125768363-125768364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534191335	chr4:125768369-125768370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62323264	chr4:125768370-125768371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370614409	chr4:125768422-125768423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573853133	chr4:125768440-125768441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9307552	chr4:125768450-125768451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs563129988	chr4:125768454-125768455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530446380	chr4:125768575-125768576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548930549	chr4:125768592-125768593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562991367	chr4:125768650-125768651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560854313	chr4:125768660-125768661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35513660	chr4:125768662-125768663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528167012	chr4:125768668-125768669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546524011	chr4:125768718-125768719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571100967	chr4:125768779-125768780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112472694	chr4:125768790-125768791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112902041	chr4:125768843-125768844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538404148	chr4:125768881-125768882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550461112	chr4:125768897-125768898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187171096	chr4:125768917-125768918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536263874	chr4:125768966-125768967	Weak transcription	n/a	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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125767200-125768400	Enhancers	NHEK	skin
2	chr4:125767400-125768400	Enhancers	HMEC	breast
3	chr4:125768000-125773000	Weak transcription	Placenta Amnion	Placenta Amnion

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