Variant report

Variant	nsv824642
Chromosome Location	chr1:152191684-152193520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 312 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:312 , 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	rs374494412	chr1:152191686-152191687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34625286	chr1:152191687-152191688	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs201507766	chr1:152191691-152191692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75775485	chr1:152191694-152191695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34188717	chr1:152191696-152191697	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs111789738	chr1:152191698-152191699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143461895	chr1:152191701-152191702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6662450	chr1:152191709-152191710	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs77898999	chr1:152191712-152191713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571564165	chr1:152191718-152191719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201506455	chr1:152191721-152191722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368884898	chr1:152191723-152191724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534244931	chr1:152191725-152191726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374297870	chr1:152191731-152191732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180934266	chr1:152191732-152191733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148511769	chr1:152191733-152191734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374698370	chr1:152191735-152191736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541078571	chr1:152191754-152191755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367826890	chr1:152191765-152191766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368316243	chr1:152191766-152191767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150641638	chr1:152191767-152191768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144865604	chr1:152191772-152191773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372266640	chr1:152191773-152191774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140223455	chr1:152191774-152191775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145603577	chr1:152191778-152191779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143475453	chr1:152191780-152191781	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200932455	chr1:152191787-152191788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562132712	chr1:152191789-152191790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200303865	chr1:152191791-152191792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369198112	chr1:152191797-152191798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372523498	chr1:152191805-152191806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148459733	chr1:152191806-152191807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142594836	chr1:152191809-152191810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150959123	chr1:152191816-152191817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150381770	chr1:152191817-152191818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370044545	chr1:152191824-152191825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374420054	chr1:152191834-152191835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149564910	chr1:152191835-152191836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139190045	chr1:152191841-152191842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200947175	chr1:152191844-152191845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs267598027	chr1:152191877-152191878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370605400	chr1:152191878-152191879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10788828	chr1:152191879-152191880	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs142961591	chr1:152191884-152191885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138997729	chr1:152191888-152191889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577535309	chr1:152191891-152191892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377683482	chr1:152191895-152191896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563357670	chr1:152191906-152191907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370652380	chr1:152191913-152191914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199798618	chr1:152191916-152191917	ZNF genes & repeats 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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152191400-152193600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:152191600-152197200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:152192600-152197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:152192800-152193000	ZNF genes & repeats	Esophagus	oesophagus

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