Variant report

Variant	nsv824254
Chromosome Location	chr1:114045756-114046475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148520106	chr1:114045766-114045767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199791669	chr1:114045832-114045833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12757272	chr1:114045926-114045927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373943053	chr1:114045932-114045933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59331456	chr1:114045954-114045955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59794366	chr1:114045955-114045956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531684680	chr1:114045979-114045980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183489659	chr1:114045980-114045981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12407567	chr1:114045990-114045991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61589674	chr1:114045993-114045994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548237054	chr1:114046022-114046023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539629783	chr1:114046110-114046111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148462364	chr1:114046132-114046133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533963045	chr1:114046134-114046135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551989918	chr1:114046148-114046149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547393055	chr1:114046183-114046184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78803823	chr1:114046205-114046206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556188421	chr1:114046217-114046218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12408696	chr1:114046286-114046287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148551129	chr1:114046299-114046300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199611988	chr1:114046302-114046303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576243504	chr1:114046303-114046304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200731084	chr1:114046306-114046307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201917964	chr1:114046309-114046310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199898476	chr1:114046310-114046311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189474960	chr1:114046335-114046336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75871577	chr1:114046371-114046372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535551891	chr1:114046379-114046380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555393560	chr1:114046382-114046383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181068628	chr1:114046405-114046406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34851151	chr1:114046423-114046424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142612672	chr1:114046447-114046448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560656284	chr1:114046467-114046468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114034200-114053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:114039800-114049400	Weak transcription	Pancreas	Pancrea
3	chr1:114039800-114050400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:114045600-114048400	Weak transcription	H9 Cell Line	embryonic stem cell

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