Variant report

Variant	esv3324914
Chromosome Location	chr4:133108302-133110300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545111673	chr4:133108310-133108311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564993396	chr4:133108331-133108332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181611457	chr4:133108338-133108339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186218079	chr4:133108340-133108341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539140075	chr4:133108347-133108348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561334753	chr4:133108412-133108413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530356414	chr4:133108458-133108459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547258011	chr4:133108483-133108484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191362350	chr4:133108492-133108493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71616721	chr4:133108498-133108499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535064785	chr4:133108499-133108500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58993399	chr4:133108589-133108590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375097423	chr4:133108595-133108596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551503905	chr4:133108606-133108607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181398098	chr4:133108623-133108624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368401593	chr4:133108643-133108644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186080996	chr4:133108788-133108789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556728586	chr4:133108789-133108790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573557588	chr4:133108795-133108796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13120191	chr4:133108892-133108893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535828488	chr4:133108897-133108898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13144255	chr4:133108905-133108906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116123665	chr4:133108911-133108912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35803918	chr4:133108949-133108950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190017029	chr4:133108965-133108966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538043047	chr4:133108972-133108973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540855349	chr4:133108988-133108989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575599149	chr4:133109008-133109009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564731645	chr4:133109060-133109061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13144856	chr4:133109068-133109069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544673033	chr4:133109102-133109103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35965216	chr4:133109132-133109133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561161203	chr4:133109144-133109145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550047052	chr4:133109167-133109168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530072101	chr4:133109219-133109220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540592101	chr4:133109225-133109226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34270386	chr4:133109248-133109249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397879596	chr4:133109254-133109255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560719437	chr4:133109377-133109378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13145154	chr4:133109384-133109385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568353923	chr4:133109385-133109386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569470003	chr4:133109418-133109419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530649216	chr4:133109429-133109430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550633535	chr4:133109432-133109433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535775811	chr4:133109444-133109445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536214541	chr4:133109457-133109458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577801632	chr4:133109467-133109468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532575556	chr4:133109474-133109475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566473900	chr4:133109511-133109512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540843160	chr4:133109519-133109520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133102000-133110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:133110000-133110200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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