Variant report

Variant	nsv980167
Chromosome Location	chr4:175007302-175008157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568466560	chr4:175007309-175007310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34793145	chr4:175007313-175007314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549019864	chr4:175007322-175007323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116402436	chr4:175007349-175007350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539627697	chr4:175007380-175007381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188575053	chr4:175007402-175007403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73868236	chr4:175007406-175007407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7694564	chr4:175007465-175007466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538855534	chr4:175007508-175007509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534469955	chr4:175007513-175007514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549990920	chr4:175007517-175007518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558469459	chr4:175007528-175007529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76978102	chr4:175007543-175007544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573629662	chr4:175007547-175007548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112428648	chr4:175007565-175007566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535569427	chr4:175007586-175007587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554198390	chr4:175007603-175007604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146553018	chr4:175007621-175007622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542982768	chr4:175007659-175007660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193085809	chr4:175007711-175007712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7669541	chr4:175007726-175007727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2060514	chr4:175007741-175007742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76653874	chr4:175007747-175007748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559703224	chr4:175007766-175007767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528647651	chr4:175007789-175007790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114389018	chr4:175007809-175007810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141279731	chr4:175007943-175007944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150228081	chr4:175007957-175007958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35788926	chr4:175007962-175007963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138879708	chr4:175007973-175007974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17332506	chr4:175007987-175007988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372613958	chr4:175008005-175008006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538552778	chr4:175008014-175008015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182642731	chr4:175008041-175008042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149414980	chr4:175008057-175008058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143768985	chr4:175008072-175008073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2060513	chr4:175008095-175008096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574170335	chr4:175008097-175008098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543046170	chr4:175008106-175008107	Weak transcription Enhancers	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175006400-175008400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:175007200-175007400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:175008000-175008600	Enhancers	Fetal Lung	lung

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