Variant report

Variant	esv994666
Chromosome Location	chr1:58612446-58615559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550724076	chr1:58612458-58612459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547312863	chr1:58612484-58612485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570380085	chr1:58612586-58612587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539428462	chr1:58612593-58612594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549465491	chr1:58612649-58612650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143639231	chr1:58612656-58612657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535236594	chr1:58612680-58612681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115712566	chr1:58612692-58612693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1776183	chr1:58612714-58612715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74987352	chr1:58612716-58612717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554518292	chr1:58612763-58612764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548799314	chr1:58612777-58612778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567076914	chr1:58612824-58612825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577424100	chr1:58612829-58612830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546179929	chr1:58612835-58612836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185465561	chr1:58612836-58612837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576371751	chr1:58612886-58612887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375415728	chr1:58612895-58612896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150229394	chr1:58612911-58612912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561821515	chr1:58613002-58613003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527498756	chr1:58613009-58613010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367695457	chr1:58613010-58613011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564410225	chr1:58613015-58613016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374378704	chr1:58613016-58613017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2806397	chr1:58613048-58613049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550038048	chr1:58613057-58613058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183373765	chr1:58613066-58613067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535419498	chr1:58613072-58613073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186846799	chr1:58613087-58613088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191580030	chr1:58613096-58613097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534398790	chr1:58613163-58613164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554358616	chr1:58613167-58613168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2806398	chr1:58613189-58613190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539780198	chr1:58613201-58613202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563287297	chr1:58613220-58613221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141695135	chr1:58613268-58613269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80037485	chr1:58613284-58613285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76291705	chr1:58613285-58613286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71051268	chr1:58613296-58613297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545548611	chr1:58613303-58613304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183883661	chr1:58613360-58613361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541789810	chr1:58613365-58613366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561856603	chr1:58613475-58613476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572161159	chr1:58613557-58613558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74971965	chr1:58613563-58613564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564167644	chr1:58613602-58613603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76965671	chr1:58613655-58613656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80215190	chr1:58613671-58613672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61779200	chr1:58613676-58613677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543378663	chr1:58613715-58613716	Enhancers Weak transcription	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
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
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58610600-58615000	Weak transcription	Liver	Liver
2	chr1:58613600-58616200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:58613800-58614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:58614400-58615000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:58615000-58615400	Enhancers	Fetal Thymus	thymus
6	chr1:58615000-58616000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:58615000-58616000	Enhancers	Liver	Liver

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