Variant report

Variant	nsv826281
Chromosome Location	chr12:20968758-20983688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 844 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529471627	chr12:20968759-20968760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549294341	chr12:20968766-20968767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566179004	chr12:20968772-20968773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370551723	chr12:20968778-20968779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528530013	chr12:20968782-20968783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370172063	chr12:20968794-20968795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374604069	chr12:20968800-20968801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571633334	chr12:20968804-20968805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533097921	chr12:20968807-20968808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537425469	chr12:20968808-20968809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556524453	chr12:20968809-20968810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10734710	chr12:20968828-20968829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs193031273	chr12:20968832-20968833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555227672	chr12:20968867-20968868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569599313	chr12:20968875-20968876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371677382	chr12:20968876-20968877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74464403	chr12:20968880-20968881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577248265	chr12:20968935-20968936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369901421	chr12:20968947-20968948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67516591	chr12:20968982-20968983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563680912	chr12:20968990-20968991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573955359	chr12:20969001-20969002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75589443	chr12:20969071-20969072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559662228	chr12:20969102-20969103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547464767	chr12:20969132-20969133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528601744	chr12:20969149-20969150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551617211	chr12:20969196-20969197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374777043	chr12:20969228-20969229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369664536	chr12:20969252-20969253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565355207	chr12:20969254-20969255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373226117	chr12:20969315-20969316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1850011	chr12:20969323-20969324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142309919	chr12:20969360-20969361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569973037	chr12:20969383-20969384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183752439	chr12:20969390-20969391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369359476	chr12:20969408-20969409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565773614	chr12:20969433-20969434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534796849	chr12:20969497-20969498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557479866	chr12:20969521-20969522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577398924	chr12:20969522-20969523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577311705	chr12:20969528-20969529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536658795	chr12:20969534-20969535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556493227	chr12:20969586-20969587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574296733	chr12:20969601-20969602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187603307	chr12:20969619-20969620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371480876	chr12:20969620-20969621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192085757	chr12:20969625-20969626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539571680	chr12:20969626-20969627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573384008	chr12:20969637-20969638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1115043	chr12:20969645-20969646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20964600-20969600	Weak transcription	A549	lung
2	chr12:20967400-20975400	Weak transcription	Liver	Liver
3	chr12:20969600-20970400	Strong transcription	A549	lung
4	chr12:20970400-20975200	Weak transcription	A549	lung
5	chr12:20974200-20975400	Active TSS	Hela-S3	cervix
6	chr12:20975200-20977200	Active TSS	A549	lung
7	chr12:20975400-20976000	Enhancers	Liver	Liver
8	chr12:20975400-20976200	Flanking Active TSS	Hela-S3	cervix
9	chr12:20976000-20981400	Weak transcription	Liver	Liver
10	chr12:20976200-20976600	Enhancers	Hela-S3	cervix
11	chr12:20976600-20976800	Flanking Active TSS	Hela-S3	cervix
12	chr12:20976800-20977000	Active TSS	Hela-S3	cervix
13	chr12:20977200-20977600	Flanking Active TSS	A549	lung
14	chr12:20977600-20979000	Active TSS	A549	lung
15	chr12:20979000-20980200	Flanking Active TSS	A549	lung
16	chr12:20980200-20984000	Enhancers	A549	lung
17	chr12:20981400-20983600	Enhancers	Liver	Liver
18	chr12:20983200-20983400	Enhancers	Hela-S3	cervix
19	chr12:20983400-20996400	Weak transcription	Hela-S3	cervix
20	chr12:20983600-20995600	Weak transcription	Liver	Liver

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