Variant report

Variant	esv3401707
Chromosome Location	chr1:61500864-61505062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61504351..61505961-chr1:61510589..61512911,2	K562	blood:
2	chr1:61501914..61504741-chr1:61586889..61589554,2	K562	blood:
3	chr1:61494261..61496115-chr1:61500097..61502305,2	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112810308	chr1:61500921-61500922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192853214	chr1:61500927-61500928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572937721	chr1:61500935-61500936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557367160	chr1:61500952-61500953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534601871	chr1:61500958-61500959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144787723	chr1:61500963-61500964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574016347	chr1:61500969-61500970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185809214	chr1:61500970-61500971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375129851	chr1:61501026-61501027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386631670	chr1:61501035-61501036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148849936	chr1:61501048-61501049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545147959	chr1:61501063-61501064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560229124	chr1:61501064-61501065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189406461	chr1:61501079-61501080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548995284	chr1:61501093-61501094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560933232	chr1:61501102-61501103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532074483	chr1:61501122-61501123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574687345	chr1:61501170-61501171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550206404	chr1:61501174-61501175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571866109	chr1:61501179-61501180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201494105	chr1:61501184-61501185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569472588	chr1:61501185-61501186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143520316	chr1:61501213-61501214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547979413	chr1:61501234-61501235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566597294	chr1:61501242-61501243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533854049	chr1:61501244-61501245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555441069	chr1:61501258-61501259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181031918	chr1:61501261-61501262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537800881	chr1:61501268-61501269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557107799	chr1:61501280-61501281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575384018	chr1:61501281-61501282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577834615	chr1:61501282-61501283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185305331	chr1:61501293-61501294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113782828	chr1:61501317-61501318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374841647	chr1:61501329-61501330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545812488	chr1:61501337-61501338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375728430	chr1:61501384-61501385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147977797	chr1:61501414-61501415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572241265	chr1:61501436-61501437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542704870	chr1:61501457-61501458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560995412	chr1:61501460-61501461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531614603	chr1:61501461-61501462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71582632	chr1:61501478-61501479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200419622	chr1:61501479-61501480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141645901	chr1:61501486-61501487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532816524	chr1:61501489-61501490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147107694	chr1:61501497-61501498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138546079	chr1:61501529-61501530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527428134	chr1:61501556-61501557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549101187	chr1:61501566-61501567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61489600-61508200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:61500400-61501600	Weak transcription	K562	blood
3	chr1:61501600-61501800	ZNF genes & repeats	K562	blood
4	chr1:61502600-61502800	Enhancers	Pancreas	Pancrea
5	chr1:61502800-61508200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:61502800-61508600	Weak transcription	Pancreas	Pancrea
7	chr1:61504200-61508400	Weak transcription	Gastric	stomach

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