Variant report

Variant	esv3415803
Chromosome Location	chr12:33810735-33812633
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	chr12:33809313..33810966-chr12:33832220..33835115,2	K562	blood:
2	chr12:33807598..33810256-chr12:33811118..33813511,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115357629	chr12:33810747-33810748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570525812	chr12:33810787-33810788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34598530	chr12:33810788-33810789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201850624	chr12:33810796-33810797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533166254	chr12:33810808-33810809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568445330	chr12:33810882-33810883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546850067	chr12:33811109-33811110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566570656	chr12:33811165-33811166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116985081	chr12:33811179-33811180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548959914	chr12:33811194-33811195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12312642	chr12:33811200-33811201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11052824	chr12:33811345-33811346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147601157	chr12:33811364-33811365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111397858	chr12:33811368-33811369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578213918	chr12:33811407-33811408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58893347	chr12:33811427-33811428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7488534	chr12:33811430-33811431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575682149	chr12:33811449-33811450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573785366	chr12:33811474-33811475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542719176	chr12:33811481-33811482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59892100	chr12:33811487-33811488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs728033	chr12:33811490-33811491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12146824	chr12:33811525-33811526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534647696	chr12:33811543-33811544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57761929	chr12:33811549-33811550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563057895	chr12:33811559-33811560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528086106	chr12:33811563-33811564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544144744	chr12:33811570-33811571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111915029	chr12:33811598-33811599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184225811	chr12:33811619-33811620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112357762	chr12:33811623-33811624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56226317	chr12:33811629-33811630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71068400	chr12:33811639-33811640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533102785	chr12:33811675-33811676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558350494	chr12:33811691-33811692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546809105	chr12:33811695-33811696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187472866	chr12:33811764-33811765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141110405	chr12:33811772-33811773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576689502	chr12:33811800-33811801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549123685	chr12:33811803-33811804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568727847	chr12:33811817-33811818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540932511	chr12:33811982-33811983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192722148	chr12:33811996-33811997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551120588	chr12:33812004-33812005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571903210	chr12:33812087-33812088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534260530	chr12:33812090-33812091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148528043	chr12:33812118-33812119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372269230	chr12:33812119-33812120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7315881	chr12:33812132-33812133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150279142	chr12:33812134-33812135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33810000-33811000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:33810200-33810800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:33810400-33811000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:33811000-33814000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:33811000-33815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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