Variant report

Variant	esv3466888
Chromosome Location	chr4:188041759-188043515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549578247	chr4:188042696-188042697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566415948	chr4:188042704-188042705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575199590	chr4:188042745-188042746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187887790	chr4:188042775-188042776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558120210	chr4:188042800-188042801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148923204	chr4:188042808-188042809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143666590	chr4:188042819-188042820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148050646	chr4:188042821-188042822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573376918	chr4:188042843-188042844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529169585	chr4:188042860-188042861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542444970	chr4:188042874-188042875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193188418	chr4:188042886-188042887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9790585	chr4:188042923-188042924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368501223	chr4:188042955-188042956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185034168	chr4:188043006-188043007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114724179	chr4:188043082-188043083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550172985	chr4:188043087-188043088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563801419	chr4:188043088-188043089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143737726	chr4:188043096-188043097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549644037	chr4:188043150-188043151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189399364	chr4:188043172-188043173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143735752	chr4:188043179-188043180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371827616	chr4:188043186-188043187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147179866	chr4:188043206-188043207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533405989	chr4:188043258-188043259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181718425	chr4:188043343-188043344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571818099	chr4:188043400-188043401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537076275	chr4:188043402-188043403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57783406	chr4:188043450-188043451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs367578701	chr4:188043508-188043509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188042600-188045400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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