Variant report

Variant	esv3371681
Chromosome Location	chr1:56128164-56134062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 349 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114152143	chr1:56128176-56128177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs181606660	chr1:56128181-56128182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111204075	chr1:56128183-56128184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191234640	chr1:56128184-56128185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs530055246	chr1:56128198-56128199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62653746	chr1:56128202-56128203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs150754538	chr1:56128203-56128204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528266508	chr1:56128204-56128205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551600610	chr1:56128205-56128206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571358129	chr1:56128210-56128211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111204076	chr1:56128213-56128214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs146345365	chr1:56128217-56128218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201533966	chr1:56128223-56128224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373018523	chr1:56128226-56128227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369742600	chr1:56128228-56128229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369950986	chr1:56128231-56128232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375672342	chr1:56128236-56128237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111204077	chr1:56128240-56128241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs573526372	chr1:56128241-56128242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545379552	chr1:56128242-56128243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370592522	chr1:56128253-56128254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149019072	chr1:56128254-56128255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370322298	chr1:56128256-56128257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs377540838	chr1:56128257-56128258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs377743376	chr1:56128258-56128259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs375269163	chr1:56128261-56128262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs111204078	chr1:56128266-56128267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530024239	chr1:56128268-56128269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111204079	chr1:56128270-56128271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs559387893	chr1:56128271-56128272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144349521	chr1:56128276-56128277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs367923550	chr1:56128284-56128285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528343439	chr1:56128286-56128287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370712921	chr1:56128288-56128289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372901764	chr1:56128291-56128292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375534680	chr1:56128296-56128297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571386723	chr1:56128298-56128299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530749099	chr1:56128301-56128302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs370059798	chr1:56128306-56128307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371754364	chr1:56128314-56128315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550675032	chr1:56128316-56128317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377124115	chr1:56128318-56128319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369062872	chr1:56128321-56128322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372754076	chr1:56128326-56128327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552956813	chr1:56128328-56128329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566353851	chr1:56128331-56128332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs137957881	chr1:56128336-56128337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs376256330	chr1:56128337-56128338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200508488	chr1:56128344-56128345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111214310	chr1:56128345-56128346	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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	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
Gastric adenocarcinoma	19115996	CNVD
Parathyroid adenoma	22454399	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56128000-56130000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr1:56128800-56129600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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