Variant report

Variant	esv2762462
Chromosome Location	chr4:132113910-132120126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543563104	chr4:132113929-132113930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112957238	chr4:132113945-132113946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370383348	chr4:132113957-132113958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190367455	chr4:132113971-132113972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182921370	chr4:132113982-132113983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs542984121	chr4:132113994-132113995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115186168	chr4:132114018-132114019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562486114	chr4:132114047-132114048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527341648	chr4:132114280-132114281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188831499	chr4:132114348-132114349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547458678	chr4:132114371-132114372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564127488	chr4:132114372-132114373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112053001	chr4:132114389-132114390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549970017	chr4:132114440-132114441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368593859	chr4:132114461-132114462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568000996	chr4:132114482-132114483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569901542	chr4:132114486-132114487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561689726	chr4:132114517-132114518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535727228	chr4:132114560-132114561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs754400	chr4:132114577-132114578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566057918	chr4:132114604-132114605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78892425	chr4:132114697-132114698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370707875	chr4:132114714-132114715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10014433	chr4:132114792-132114793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577687774	chr4:132114793-132114794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537161877	chr4:132114795-132114796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570280201	chr4:132114810-132114811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386679571	chr4:132114811-132114812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192902138	chr4:132114812-132114813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539133180	chr4:132114813-132114814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545022313	chr4:132114868-132114869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540620679	chr4:132114896-132114897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564088773	chr4:132114902-132114903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375811864	chr4:132114973-132114974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552342895	chr4:132114990-132114991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115137261	chr4:132115010-132115011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185103280	chr4:132115058-132115059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563472860	chr4:132115105-132115106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11933689	chr4:132115119-132115120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549170238	chr4:132115151-132115152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs750998	chr4:132115158-132115159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534941112	chr4:132115229-132115230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551326222	chr4:132115255-132115256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571339544	chr4:132115325-132115326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150253010	chr4:132115331-132115332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557078884	chr4:132115345-132115346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573883726	chr4:132115346-132115347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78024147	chr4:132115351-132115352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553533352	chr4:132115370-132115371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573428625	chr4:132115382-132115383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132111000-132117600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:132113400-132114000	ZNF genes & repeats	Dnd41	blood
3	chr4:132117400-132118400	Active TSS	A549	lung
4	chr4:132117600-132117800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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