Variant report

Variant	esv3377292
Chromosome Location	chr1:152188428-152192926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 372 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:372 , 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	rs61814941	chr1:152188463-152188464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373483300	chr1:152188470-152188471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552285143	chr1:152188471-152188472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs140946102	chr1:152188523-152188524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201468984	chr1:152188593-152188594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145667921	chr1:152188847-152188848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201735593	chr1:152188861-152188862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536548078	chr1:152188874-152188875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61814942	chr1:152188920-152188921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34655925	chr1:152188940-152188941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76879172	chr1:152188961-152188962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556107485	chr1:152188962-152188963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78582525	chr1:152188964-152188965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371176862	chr1:152188985-152188986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377679965	chr1:152188995-152188996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80018286	chr1:152188998-152188999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149648668	chr1:152188999-152189000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143400240	chr1:152189008-152189009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147155372	chr1:152189015-152189016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200517377	chr1:152189016-152189017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140441435	chr1:152189028-152189029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76438416	chr1:152189029-152189030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145118416	chr1:152189038-152189039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576397826	chr1:152189050-152189051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4845749	chr1:152189055-152189056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71625162	chr1:152189067-152189068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545153882	chr1:152189106-152189107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200543988	chr1:152189237-152189238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201431455	chr1:152189242-152189243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149533530	chr1:152189263-152189264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202085649	chr1:152189296-152189297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112765753	chr1:152189302-152189303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200264076	chr1:152189312-152189313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201377172	chr1:152189314-152189315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199583467	chr1:152189316-152189317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200547530	chr1:152189317-152189318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199713875	chr1:152189345-152189346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201682263	chr1:152189411-152189412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199598507	chr1:152189425-152189426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113497255	chr1:152189516-152189517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572140005	chr1:152189519-152189520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200709011	chr1:152189535-152189536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144150413	chr1:152189562-152189563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77598269	chr1:152189586-152189587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368528146	chr1:152189780-152189781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112084576	chr1:152189823-152189824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111689937	chr1:152189864-152189865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372893644	chr1:152189873-152189874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201575612	chr1:152189931-152189932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199866935	chr1:152189937-152189938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152188000-152188600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr1:152188200-152188600	ZNF genes & repeats	Pancreas	Pancrea
3	chr1:152188800-152190600	Weak transcription	Pancreas	Pancrea
4	chr1:152191400-152191600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:152191400-152193600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:152191600-152197200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:152192600-152197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:152192800-152193000	ZNF genes & repeats	Esophagus	oesophagus

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