Variant report

Variant	esv3453713
Chromosome Location	chr1:152510611-152512169
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	chr1:152508160..152510844-chr1:152518388..152520386,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149175868	chr1:152510620-152510621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554349126	chr1:152510621-152510622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146552024	chr1:152510627-152510628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553564056	chr1:152510643-152510644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566965644	chr1:152510647-152510648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs74128279	chr1:152510655-152510656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs1885530	chr1:152510693-152510694	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533786444	chr1:152510695-152510696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575525111	chr1:152510732-152510733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558547936	chr1:152510743-152510744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544247871	chr1:152510773-152510774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557708637	chr1:152510811-152510812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs578073706	chr1:152510832-152510833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs578251261	chr1:152511022-152511023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188223827	chr1:152511024-152511025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181030491	chr1:152511041-152511042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs55692268	chr1:152511138-152511139	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139069735	chr1:152511143-152511144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562811289	chr1:152511178-152511179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs142984724	chr1:152511192-152511193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551422427	chr1:152511239-152511240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147027773	chr1:152511243-152511244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs11205024	chr1:152511268-152511269	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547194735	chr1:152511290-152511291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567315784	chr1:152511431-152511432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76167622	chr1:152511432-152511433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549165059	chr1:152511445-152511446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528427	chr1:152511507-152511508	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538133976	chr1:152511521-152511522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs478926	chr1:152511533-152511534	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184903902	chr1:152511595-152511596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190650864	chr1:152511641-152511642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77893851	chr1:152511652-152511653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574068720	chr1:152511667-152511668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542890207	chr1:152511691-152511692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562650783	chr1:152511711-152511712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181504816	chr1:152511752-152511753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187035215	chr1:152511756-152511757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11268439	chr1:152511826-152511827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs75958448	chr1:152511843-152511844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78682331	chr1:152511844-152511845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs67546851	chr1:152511848-152511849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565156499	chr1:152511875-152511876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527299516	chr1:152511876-152511877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191075338	chr1:152511884-152511885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs1337338	chr1:152511885-152511886	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554693345	chr1:152511982-152511983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181127006	chr1:152511983-152511984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569124721	chr1:152512014-152512015	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114925439	chr1:152512024-152512025	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152508400-152513400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:152512000-152512800	Enhancers	A549	lung

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