Variant report

Variant	nsv442268
Chromosome Location	chr12:38660915-38668897
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	E2F4	chr12:38663881-38663939	MCF10A-Er-Src	breast:	n/a	n/a
2	ESR1	chr12:38663603-38663909	ECC-1	luminal epithelium:	n/a	chr12:38663708-38663725
3	FOS	chr12:38663700-38664044	MCF10A-Er-Src	breast:	n/a	chr12:38663845-38663856 chr12:38663844-38663851 chr12:38663844-38663852
4	FOS	chr12:38663746-38664033	MCF10A-Er-Src	breast:	n/a	chr12:38663845-38663856 chr12:38663844-38663851 chr12:38663844-38663852
5	FOS	chr12:38663685-38664066	MCF10A-Er-Src	breast:	n/a	chr12:38663845-38663856 chr12:38663844-38663851 chr12:38663844-38663852
6	FOS	chr12:38663699-38664070	MCF10A-Er-Src	breast:	n/a	chr12:38663845-38663856 chr12:38663844-38663851 chr12:38663844-38663852
7	MAFK	chr12:38667120-38667129	HepG2	liver:	n/a	n/a
8	MYC	chr12:38663832-38664021	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:38664928-38664942	GM12878	blood:	n/a	n/a
10	STAT3	chr12:38663737-38664064	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr12:38663844-38664044	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253016	TF binding region

Extended variants
information (count: 387 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:387 , 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	rs550083901	chr12:38660939-38660940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569695157	chr12:38660951-38660952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538649520	chr12:38660956-38660957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376772906	chr12:38660967-38660968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113055808	chr12:38660968-38660969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573862634	chr12:38660998-38660999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543890957	chr12:38661022-38661023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577769404	chr12:38661023-38661024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542616631	chr12:38661025-38661026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181125674	chr12:38661026-38661027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534416546	chr12:38661033-38661034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373592211	chr12:38661034-38661035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10880802	chr12:38661059-38661060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs142297066	chr12:38661081-38661082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186982068	chr12:38661085-38661086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577672826	chr12:38661101-38661102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556462744	chr12:38661111-38661112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11183075	chr12:38661117-38661118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545130863	chr12:38661129-38661130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545392766	chr12:38661132-38661133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139203492	chr12:38661139-38661140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572546244	chr12:38661143-38661144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560264004	chr12:38661196-38661197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188818538	chr12:38661217-38661218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561100714	chr12:38661228-38661229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527904362	chr12:38661250-38661251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12230630	chr12:38661268-38661269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543613413	chr12:38661277-38661278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200282071	chr12:38661291-38661292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563589619	chr12:38661292-38661293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532261062	chr12:38661302-38661303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181912057	chr12:38661400-38661401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186400470	chr12:38661422-38661423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371224181	chr12:38661425-38661426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528225921	chr12:38661438-38661439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149944511	chr12:38661467-38661468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561452243	chr12:38661511-38661512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532030953	chr12:38661518-38661519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190799591	chr12:38661625-38661626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549946525	chr12:38661634-38661635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571317331	chr12:38661655-38661656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536465373	chr12:38661706-38661707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556295619	chr12:38661707-38661708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74086227	chr12:38661792-38661793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538957376	chr12:38661831-38661832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183017030	chr12:38661852-38661853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558947682	chr12:38661860-38661861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538599767	chr12:38661862-38661863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572333624	chr12:38661877-38661878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143359123	chr12:38661878-38661879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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	chr12:38645600-38663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:38662400-38662800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:38662400-38662800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:38663800-38664400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:38664400-38673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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