Variant report

Variant	esv988354
Chromosome Location	chr4:175330931-175337542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543320648	chr4:175336839-175336840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545226406	chr4:175336861-175336862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183712754	chr4:175336902-175336903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146833516	chr4:175336969-175336970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564897267	chr4:175336981-175336982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575828684	chr4:175336982-175336983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538468288	chr4:175337021-175337022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527343213	chr4:175337037-175337038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547128853	chr4:175337038-175337039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560728637	chr4:175337068-175337069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529874859	chr4:175337070-175337071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549583542	chr4:175337072-175337073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4558849	chr4:175337094-175337095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189611742	chr4:175337095-175337096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4399961	chr4:175337098-175337099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551445850	chr4:175337201-175337202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571656623	chr4:175337208-175337209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540685845	chr4:175337268-175337269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112979097	chr4:175337269-175337270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7658996	chr4:175337351-175337352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190242916	chr4:175337354-175337355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374134726	chr4:175337356-175337357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536807176	chr4:175337357-175337358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556738227	chr4:175337376-175337377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576609471	chr4:175337382-175337383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545691549	chr4:175337393-175337394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181495114	chr4:175337413-175337414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571753745	chr4:175337418-175337419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199878887	chr4:175337443-175337444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540711153	chr4:175337498-175337499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560617996	chr4:175337540-175337541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185039393	chr4:175337542-175337543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Metanephric adenoma	20802469	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
High-grade prostatic intraepithelial neoplasia	16573809	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
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175336800-175340600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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