Variant report

Variant	esv3351486
Chromosome Location	chr4:107439790-107442919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36018895	chr4:107439823-107439824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186282113	chr4:107439899-107439900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530211628	chr4:107439964-107439965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76777096	chr4:107439968-107439969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560202927	chr4:107439976-107439977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532415461	chr4:107440082-107440083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552130733	chr4:107440109-107440110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571551246	chr4:107440154-107440155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537041606	chr4:107440170-107440171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370286050	chr4:107440191-107440192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530681373	chr4:107440196-107440197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140803367	chr4:107440238-107440239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75887371	chr4:107440244-107440245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144785741	chr4:107440259-107440260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76230376	chr4:107440261-107440262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78982612	chr4:107440303-107440304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189530974	chr4:107440306-107440307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180826545	chr4:107440334-107440335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575918469	chr4:107440336-107440337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376299876	chr4:107440342-107440343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538111207	chr4:107440365-107440366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186242154	chr4:107440366-107440367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138954219	chr4:107440376-107440377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201224056	chr4:107440377-107440378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574971857	chr4:107440378-107440379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202133802	chr4:107440402-107440403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62320161	chr4:107440411-107440412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540423103	chr4:107440448-107440449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191114042	chr4:107440471-107440472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541286662	chr4:107440494-107440495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553226214	chr4:107440516-107440517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560239369	chr4:107440523-107440524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576911081	chr4:107440535-107440536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545807285	chr4:107440553-107440554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138753052	chr4:107440620-107440621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530837305	chr4:107440693-107440694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552468321	chr4:107440699-107440700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78216216	chr4:107440740-107440741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529945539	chr4:107440777-107440778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56392925	chr4:107440778-107440779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534571588	chr4:107440816-107440817	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538711594	chr4:107440876-107440877	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141900619	chr4:107440882-107440883	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114959426	chr4:107440916-107440917	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537835683	chr4:107440953-107440954	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145626435	chr4:107441011-107441012	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574768578	chr4:107441031-107441032	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75656771	chr4:107441058-107441059	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77185098	chr4:107441064-107441065	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534157313	chr4:107441080-107441081	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107415200-107450200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:107440800-107441200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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