Variant report

Variant	esv3414795
Chromosome Location	chr4:172876605-172877132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs693756	chr4:172876664-172876665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547753	chr4:172876703-172876704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551147321	chr4:172876716-172876717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34566973	chr4:172876748-172876749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571366841	chr4:172876762-172876763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1027761	chr4:172876770-172876771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs202094178	chr4:172876798-172876799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547429096	chr4:172876812-172876813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6832654	chr4:172876860-172876861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1962697	chr4:172876900-172876901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536185042	chr4:172876914-172876915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2332433	chr4:172876915-172876916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs3080343	chr4:172876922-172876923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375284807	chr4:172876923-172876924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67526641	chr4:172876926-172876927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397729803	chr4:172876936-172876937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2332434	chr4:172876942-172876943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538837366	chr4:172876959-172876960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386682102	chr4:172877017-172877018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2877676	chr4:172877021-172877022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540993503	chr4:172877040-172877041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554572245	chr4:172877076-172877077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181503862	chr4:172877080-172877081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543800271	chr4:172877085-172877086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373596699	chr4:172877113-172877114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544440546	chr4:172877124-172877125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546397783	chr4:172877125-172877126	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
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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172876400-172877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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