Variant report

Variant	esv3440736
Chromosome Location	chr1:58733980-58746501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:58740800..58743267-chr1:58744921..58746475,2	K562	blood:
2	chr1:58740800..58743267-chr1:58744921..58746475,2	K562	blood:

Extended variants
information (count: 357 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191088966	chr1:58733993-58733994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376251282	chr1:58734008-58734009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114217374	chr1:58734025-58734026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs592262	chr1:58734031-58734032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139612258	chr1:58734036-58734037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573727131	chr1:58734037-58734038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370360202	chr1:58734104-58734105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535955602	chr1:58734123-58734124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181203459	chr1:58734151-58734152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186758455	chr1:58734160-58734161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191543273	chr1:58734206-58734207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144345346	chr1:58734209-58734210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530626097	chr1:58734223-58734224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577897898	chr1:58734250-58734251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12124585	chr1:58734256-58734257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183498031	chr1:58734276-58734277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570422680	chr1:58734344-58734345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549159433	chr1:58734368-58734369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187396915	chr1:58734408-58734409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1619352	chr1:58734451-58734452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551584922	chr1:58734614-58734615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571593199	chr1:58734615-58734616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190793812	chr1:58734636-58734637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6681454	chr1:58734638-58734639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567109982	chr1:58734640-58734641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151064393	chr1:58734680-58734681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59895564	chr1:58734691-58734692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs66757961	chr1:58734692-58734693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199731573	chr1:58734699-58734700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs498927	chr1:58734702-58734703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566214702	chr1:58734732-58734733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373857015	chr1:58734762-58734763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs499094	chr1:58734767-58734768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs686293	chr1:58734796-58734797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36195995	chr1:58734820-58734821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs499961	chr1:58734835-58734836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12747523	chr1:58734837-58734838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183340488	chr1:58734902-58734903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543120611	chr1:58734915-58734916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559918163	chr1:58734984-58734985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528573777	chr1:58735135-58735136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201019222	chr1:58735216-58735217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9436168	chr1:58735289-58735290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12752381	chr1:58735473-58735474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12752393	chr1:58735492-58735493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539878291	chr1:58735619-58735620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200111075	chr1:58735620-58735621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12732532	chr1:58735728-58735729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201656513	chr1:58735756-58735757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550573824	chr1:58735837-58735838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58724000-58759600	Weak transcription	Ovary	ovary
2	chr1:58740200-58740600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr1:58740200-58740600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:58740200-58740600	Active TSS	Placenta	Placenta
5	chr1:58740200-58740800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:58740200-58740800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:58740200-58741000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:58740200-58741000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:58740200-58741000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:58740800-58741000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:58741600-58741800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:58741800-58749600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:58745200-58745400	Weak transcription	Lung	lung
14	chr1:58745400-58745800	ZNF genes & repeats	Lung	lung

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