Variant report

Variant	nsv511815
Chromosome Location	chr2:142394301-142397766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr2:142397395-142397754	HepG2	liver:	n/a	chr2:142397571-142397585 chr2:142397565-142397583
2	MAFF	chr2:142397398-142397730	K562	blood:	n/a	chr2:142397571-142397585 chr2:142397565-142397583
3	MAFK	chr2:142397421-142397764	Hela-S3	cervix:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
4	MAFK	chr2:142397447-142397716	K562	blood:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
5	MAFK	chr2:142397393-142397761	HepG2	liver:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
6	MAFK	chr2:142397429-142397694	H1-hESC	embryonic stem cell:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
7	MAFK	chr2:142397409-142397752	IMR90	lung:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588
8	MAFK	chr2:142397391-142397753	HepG2	liver:	n/a	chr2:142397575-142397584 chr2:142397570-142397586 chr2:142397567-142397582 chr2:142397571-142397585 chr2:142397572-142397581 chr2:142397568-142397588

Variant related genes	Relation type
ENSG00000265224	TF binding region

Extended variants
information (count: 158 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs355603	chr2:142394317-142394318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200957259	chr2:142394324-142394325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191983382	chr2:142394337-142394338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184396764	chr2:142394377-142394378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs355604	chr2:142394392-142394393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529080626	chr2:142394395-142394396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548906357	chr2:142394421-142394422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562559984	chr2:142394460-142394461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561492325	chr2:142394466-142394467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189078724	chr2:142394469-142394470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112302453	chr2:142394501-142394502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113037046	chr2:142394584-142394585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533813965	chr2:142394643-142394644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547311217	chr2:142394656-142394657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78382671	chr2:142394672-142394673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567056980	chr2:142394684-142394685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114613585	chr2:142394688-142394689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113477131	chr2:142394721-142394722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185732693	chr2:142394758-142394759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555698614	chr2:142394787-142394788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78049545	chr2:142394797-142394798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141868376	chr2:142394820-142394821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11690612	chr2:142394855-142394856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs189408809	chr2:142394857-142394858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540275995	chr2:142394926-142394927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180883680	chr2:142394974-142394975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185518675	chr2:142395129-142395130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550583086	chr2:142395142-142395143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368454942	chr2:142395154-142395155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374556673	chr2:142395193-142395194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562524570	chr2:142395199-142395200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190330074	chr2:142395208-142395209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181489351	chr2:142395344-142395345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186014754	chr2:142395357-142395358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527240406	chr2:142395366-142395367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533697205	chr2:142395397-142395398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547426920	chr2:142395414-142395415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567119204	chr2:142395415-142395416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529581862	chr2:142395416-142395417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549678971	chr2:142395417-142395418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569336563	chr2:142395418-142395419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538089179	chr2:142395419-142395420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146260459	chr2:142395434-142395435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557825144	chr2:142395465-142395466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551639624	chr2:142395488-142395489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571408409	chr2:142395501-142395502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533890170	chr2:142395528-142395529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564526816	chr2:142395532-142395533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574009460	chr2:142395611-142395612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148034374	chr2:142395613-142395614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142393000-142399800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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