Variant report

Variant	nsv945963
Chromosome Location	chr1:56252904-56258771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 245 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191917730	chr1:56252941-56252942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77905397	chr1:56252977-56252978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138022334	chr1:56252986-56252987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569847980	chr1:56253035-56253036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183994205	chr1:56253040-56253041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571635016	chr1:56253094-56253095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549158219	chr1:56253146-56253147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560897937	chr1:56253147-56253148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565783051	chr1:56253167-56253168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56400437	chr1:56253179-56253180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113565721	chr1:56253255-56253256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146424832	chr1:56253302-56253303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186893789	chr1:56253344-56253345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114937773	chr1:56253358-56253359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140847846	chr1:56253359-56253360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115146448	chr1:56253369-56253370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143072914	chr1:56253410-56253411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192740927	chr1:56253496-56253497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77308926	chr1:56253510-56253511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566004737	chr1:56253539-56253540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184252785	chr1:56253542-56253543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530977663	chr1:56253562-56253563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371540772	chr1:56253566-56253567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571281452	chr1:56253611-56253612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112574164	chr1:56253622-56253623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529128641	chr1:56253640-56253641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76773778	chr1:56253646-56253647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565918544	chr1:56253698-56253699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528274420	chr1:56253712-56253713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551548827	chr1:56253713-56253714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538830791	chr1:56253715-56253716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373712114	chr1:56253742-56253743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537061998	chr1:56253743-56253744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151177780	chr1:56253750-56253751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190738720	chr1:56253751-56253752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536512474	chr1:56253776-56253777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369477308	chr1:56253784-56253785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373620111	chr1:56253788-56253789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553233624	chr1:56253837-56253838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573127122	chr1:56253897-56253898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545191314	chr1:56253912-56253913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558665766	chr1:56253983-56253984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61774785	chr1:56254009-56254010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544596958	chr1:56254084-56254085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113347323	chr1:56254114-56254115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530090654	chr1:56254124-56254125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141031980	chr1:56254127-56254128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559684204	chr1:56254140-56254141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528335623	chr1:56254142-56254143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565954884	chr1:56254150-56254151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56248000-56259400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:56249000-56255200	Enhancers	Placenta	Placenta
3	chr1:56252800-56253200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:56255200-56255600	Weak transcription	Placenta	Placenta
5	chr1:56255600-56258000	Enhancers	Placenta	Placenta
6	chr1:56257800-56258000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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