Variant report

Variant	esv3382636
Chromosome Location	chr4:188135806-188136151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112735716	chr4:188135816-188135817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112457293	chr4:188135835-188135836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6824629	chr4:188135865-188135866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56311171	chr4:188135867-188135868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6824630	chr4:188135868-188135869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6824947	chr4:188135875-188135876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74667795	chr4:188135880-188135881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532526530	chr4:188135895-188135896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548663667	chr4:188135897-188135898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13114142	chr4:188135904-188135905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535994186	chr4:188135907-188135908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13114151	chr4:188135911-188135912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554748779	chr4:188135913-188135914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576200065	chr4:188135914-188135915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13138814	chr4:188135916-188135917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77306576	chr4:188135949-188135950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113458635	chr4:188135960-188135961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6850851	chr4:188135985-188135986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573226963	chr4:188136000-188136001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558400478	chr4:188136021-188136022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538834111	chr4:188136036-188136037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111285358	chr4:188136051-188136052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558744090	chr4:188136072-188136073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574969516	chr4:188136136-188136137	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188131800-188136600	Weak transcription	Esophagus	oesophagus
2	chr4:188132000-188139400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:188134800-188139600	Weak transcription	Fetal Lung	lung

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