Variant report

Variant	nsv946010
Chromosome Location	chr1:79519335-79521687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560966699	chr1:79519344-79519345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10493621	chr1:79519427-79519428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527288158	chr1:79519454-79519455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551707601	chr1:79519516-79519517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140236350	chr1:79519529-79519530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145340405	chr1:79519532-79519533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17102675	chr1:79519555-79519556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569461407	chr1:79519570-79519571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201448432	chr1:79519599-79519600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35224211	chr1:79519600-79519601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397863205	chr1:79519613-79519614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536438741	chr1:79519662-79519663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555254528	chr1:79519687-79519688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573412354	chr1:79519692-79519693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10493620	chr1:79519719-79519720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs558960519	chr1:79519735-79519736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577297917	chr1:79519744-79519745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543187561	chr1:79519802-79519803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576348323	chr1:79519831-79519832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182292880	chr1:79519834-79519835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562840753	chr1:79519865-79519866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574614266	chr1:79519883-79519884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185139025	chr1:79519902-79519903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200731852	chr1:79519916-79519917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535877273	chr1:79519923-79519924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191065745	chr1:79520005-79520006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183283779	chr1:79520006-79520007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112054899	chr1:79520061-79520062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371902450	chr1:79520092-79520093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563772944	chr1:79520199-79520200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112976556	chr1:79520211-79520212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149186934	chr1:79520219-79520220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540002687	chr1:79520236-79520237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111685725	chr1:79520261-79520262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188208526	chr1:79520324-79520325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548466438	chr1:79520327-79520328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147453564	chr1:79520484-79520485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376291569	chr1:79520488-79520489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566540411	chr1:79520541-79520542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10874009	chr1:79520554-79520555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534534543	chr1:79520570-79520571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148357041	chr1:79520597-79520598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369052722	chr1:79520616-79520617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112079954	chr1:79520628-79520629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538236034	chr1:79520662-79520663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371681922	chr1:79520670-79520671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374866277	chr1:79520671-79520672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72949641	chr1:79520675-79520676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574791419	chr1:79520686-79520687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193193408	chr1:79520692-79520693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79519200-79525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:79521600-79521800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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