Variant report

Variant	esv3352186
Chromosome Location	chr4:143694833-143696584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143647580	chr4:143694850-143694851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530168737	chr4:143694856-143694857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548341454	chr4:143694872-143694873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113981319	chr4:143694994-143694995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569795182	chr4:143695002-143695003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77594117	chr4:143695093-143695094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552457252	chr4:143695106-143695107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201297450	chr4:143695108-143695109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34741259	chr4:143695124-143695125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34845156	chr4:143695134-143695135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138432094	chr4:143695141-143695142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553022017	chr4:143695177-143695178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568133006	chr4:143695271-143695272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535226502	chr4:143695286-143695287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376379254	chr4:143695323-143695324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563355101	chr4:143695348-143695349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555142274	chr4:143695354-143695355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112218334	chr4:143695407-143695408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549070837	chr4:143695415-143695416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200780172	chr4:143695428-143695429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373706252	chr4:143695429-143695430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558797343	chr4:143695509-143695510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143912956	chr4:143695516-143695517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573744439	chr4:143695529-143695530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564381542	chr4:143695541-143695542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12507570	chr4:143695542-143695543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530205600	chr4:143695562-143695563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200137464	chr4:143695633-143695634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72347187	chr4:143695634-143695635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373750160	chr4:143695635-143695636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147193888	chr4:143695668-143695669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1373664	chr4:143695681-143695682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs28391627	chr4:143695703-143695704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78051387	chr4:143695746-143695747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193000368	chr4:143695802-143695803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76676816	chr4:143695841-143695842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140466151	chr4:143695882-143695883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141367278	chr4:143695884-143695885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538998088	chr4:143695967-143695968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76801058	chr4:143695973-143695974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150791352	chr4:143695975-143695976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550365107	chr4:143696017-143696018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568955944	chr4:143696055-143696056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537214542	chr4:143696189-143696190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558760417	chr4:143696215-143696216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183960865	chr4:143696302-143696303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535030193	chr4:143696366-143696367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367992622	chr4:143696385-143696386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77418051	chr4:143696404-143696405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573658432	chr4:143696414-143696415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143672600-143698400	Weak transcription	Aorta	Aorta
2	chr4:143684000-143697400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143684200-143706000	Weak transcription	Fetal Heart	heart
4	chr4:143689200-143697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:143694600-143695000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:143695000-143698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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