Variant report

Variant	esv2614647
Chromosome Location	chr1:56400766-56402350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6588590	chr1:56400766-56400767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557645794	chr1:56400781-56400782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34783267	chr1:56400792-56400793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577353028	chr1:56400799-56400800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144165049	chr1:56400827-56400828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563018813	chr1:56400853-56400854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188644487	chr1:56400897-56400898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542177648	chr1:56400925-56400926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560033346	chr1:56400926-56400927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191610150	chr1:56400953-56400954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184358056	chr1:56401038-56401039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565318783	chr1:56401045-56401046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189291851	chr1:56401075-56401076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560912490	chr1:56401080-56401081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148602548	chr1:56401088-56401089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567713483	chr1:56401102-56401103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548546171	chr1:56401114-56401115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11206687	chr1:56401121-56401122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs546675471	chr1:56401148-56401149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114977454	chr1:56401173-56401174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534598491	chr1:56401176-56401177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557997787	chr1:56401208-56401209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537458643	chr1:56401213-56401214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577439280	chr1:56401221-56401222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372499772	chr1:56401293-56401294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200630711	chr1:56401294-56401295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369531809	chr1:56401295-56401296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373470856	chr1:56401296-56401297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377420143	chr1:56401297-56401298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575664526	chr1:56401419-56401420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113987607	chr1:56401496-56401497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182179060	chr1:56401602-56401603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113097705	chr1:56401603-56401604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536807305	chr1:56401651-56401652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11579959	chr1:56401670-56401671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189035717	chr1:56401679-56401680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116054287	chr1:56401689-56401690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542652340	chr1:56401695-56401696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533076830	chr1:56401776-56401777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76888357	chr1:56401821-56401822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573512294	chr1:56401854-56401855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs199916943	chr1:56401860-56401861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111473294	chr1:56401907-56401908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538825911	chr1:56401926-56401927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs565548420	chr1:56401937-56401938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370855103	chr1:56401943-56401944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79629406	chr1:56401981-56401982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs5774252	chr1:56401982-56401983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374196853	chr1:56401983-56401984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs397708717	chr1:56401984-56401985	Weak transcription ZNF genes & repeats	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56397200-56403400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:56398000-56403400	Weak transcription	Ovary	ovary
3	chr1:56398400-56404000	Weak transcription	Fetal Lung	lung
4	chr1:56398600-56403600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56401000-56401200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:56401000-56401800	Weak transcription	Aorta	Aorta
7	chr1:56401800-56402000	ZNF genes & repeats	Aorta	Aorta
8	chr1:56402000-56416800	Weak transcription	Aorta	Aorta

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