Variant report

Variant	esv3361582
Chromosome Location	chr1:56128889-56131937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs562271561	chr1:56128894-56128895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs143763007	chr1:56128905-56128906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs541465830	chr1:56128907-56128908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561349205	chr1:56128909-56128910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141391864	chr1:56128913-56128914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs377219302	chr1:56128914-56128915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368402140	chr1:56128940-56128941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148128215	chr1:56128948-56128949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201765706	chr1:56128963-56128964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111204085	chr1:56128964-56128965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111063622	chr1:56128982-56128983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201341862	chr1:56129005-56129006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62641608	chr1:56129008-56129009	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570927693	chr1:56129014-56129015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533599459	chr1:56129017-56129018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574990525	chr1:56129022-56129023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200407517	chr1:56129031-56129032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535844451	chr1:56129033-56129034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200655525	chr1:56129034-56129035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188571530	chr1:56129040-56129041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201567257	chr1:56129041-56129042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs61776395	chr1:56129043-56129044	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs199939888	chr1:56129046-56129047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201103647	chr1:56129048-56129049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201907178	chr1:56129052-56129053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs199865886	chr1:56129057-56129058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs369947890	chr1:56129062-56129063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191461350	chr1:56129065-56129066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183607691	chr1:56129070-56129071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs150527749	chr1:56129079-56129080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372902234	chr1:56129083-56129084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs376346187	chr1:56129085-56129086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs118202390	chr1:56129090-56129091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189551794	chr1:56129108-56129109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181809580	chr1:56129109-56129110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142688091	chr1:56129121-56129122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs111068072	chr1:56129139-56129140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572027863	chr1:56129146-56129147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111068073	chr1:56129161-56129162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186904763	chr1:56129174-56129175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533350712	chr1:56129180-56129181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs147441385	chr1:56129201-56129202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540538081	chr1:56129208-56129209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190145859	chr1:56129235-56129236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181451546	chr1:56129238-56129239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs186602687	chr1:56129240-56129241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375256390	chr1:56129249-56129250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs114825278	chr1:56129255-56129256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs189932114	chr1:56129273-56129274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs547359647	chr1:56129278-56129279	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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