Variant report

Variant	nsv975619
Chromosome Location	chr12:86404933-86424490
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	CEBPB	chr12:86420707-86420864	IMR90	lung:	n/a	n/a
2	CTCF	chr12:86408060-86408210	A549	lung:	n/a	n/a
3	E2F4	chr12:86410787-86410972	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr12:86422367-86422546	SH-SY5Y	brain:	n/a	n/a
5	MAFF	chr12:86412146-86412533	HepG2	liver:	n/a	chr12:86412333-86412347 chr12:86412327-86412345
6	MAFF	chr12:86412166-86412515	K562	blood:	n/a	chr12:86412333-86412347 chr12:86412327-86412345
7	MAFK	chr12:86411960-86412629	GM12878	blood:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
8	MAFK	chr12:86412140-86412525	HepG2	liver:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
9	MAFK	chr12:86412157-86412516	H1-hESC	embryonic stem cell:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
10	MAFK	chr12:86412152-86412525	HepG2	liver:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
11	MAFK	chr12:86412163-86412516	K562	blood:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
12	MAFK	chr12:86412168-86412522	Hela-S3	cervix:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
13	MAFK	chr12:86412154-86412527	IMR90	lung:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
14	MAX	chr12:86409101-86409131	NB4	blood:	n/a	n/a
15	POLR2A	chr12:86416807-86416896	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:86412077-86412494	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr12:86420956-86421007	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr12:86415910-86415967	MCF10A-Er-Src	breast:	n/a	n/a
19	SPI1	chr12:86413828-86414017	GM12878	blood:	n/a	n/a
20	SPI1	chr12:86413819-86414010	K562	blood:	n/a	n/a
21	SPI1	chr12:86408865-86409426	HL-60	blood:	n/a	chr12:86409052-86409061 chr12:86408896-86408909 chr12:86409059-86409072 chr12:86409173-86409186 chr12:86409175-86409184
22	SPI1	chr12:86413819-86414064	GM12891	blood:	n/a	n/a
23	STAT3	chr12:86405801-86405822	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86416679..86418710-chr12:86418948..86421586,2	MCF-7	breast:
2	chr12:86416679..86418710-chr12:86418948..86421586,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-1	chr12:86407459-86407536	NONHSAT029760
2	lnc-MGAT4C-1	chr12:86405578-86405680	NONHSAT029760
3	lnc-MGAT4C-1	chr12:86407459-86407536	NONHSAT029759
4	lnc-NTS-2	chr12:86409475-86410219	NONHSAT029761
5	lnc-MGAT4C-1	chr12:86421882-86421982	NONHSAT029760

Variant related genes	Relation type
MGAT4C	TF binding region
ENSG00000257897	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568312051	chr12:86405581-86405582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535690056	chr12:86405582-86405583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs7313442	chr12:86405642-86405643	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs558145317	chr12:86405809-86405810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549356852	chr12:86407459-86407460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs148922035	chr12:86407495-86407496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs537892051	chr12:86407496-86407497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201855828	chr12:86407517-86407518	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs147070853	chr12:86407528-86407529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs560678119	chr12:86408061-86408062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs188036528	chr12:86408093-86408094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs368708397	chr12:86408097-86408098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549488714	chr12:86408101-86408102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs369905141	chr12:86408145-86408146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs567687304	chr12:86408153-86408154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372308615	chr12:86408167-86408168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545181851	chr12:86408185-86408186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs116452176	chr12:86408203-86408204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs148339608	chr12:86408876-86408877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs376755442	chr12:86408882-86408883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73187674	chr12:86408894-86408895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs565674547	chr12:86408897-86408898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536019012	chr12:86408916-86408917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187784865	chr12:86408917-86408918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs12822796	chr12:86408921-86408922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs569700443	chr12:86408955-86408956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536758340	chr12:86408984-86408985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs558482472	chr12:86409006-86409007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576905556	chr12:86409007-86409008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs534637908	chr12:86409008-86409009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554483301	chr12:86409009-86409010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572797323	chr12:86409010-86409011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs569430995	chr12:86409031-86409032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs374429266	chr12:86409032-86409033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs543170383	chr12:86409033-86409034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs74276061	chr12:86409042-86409043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs561331774	chr12:86409048-86409049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs141575981	chr12:86409075-86409076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs536786233	chr12:86409123-86409124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192224029	chr12:86409128-86409129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565421335	chr12:86409153-86409154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552971240	chr12:86409207-86409208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs76144167	chr12:86409223-86409224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559195582	chr12:86409225-86409226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573576240	chr12:86409229-86409230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529954054	chr12:86409233-86409234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs548326819	chr12:86409236-86409237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs73187675	chr12:86409247-86409248	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537299458	chr12:86409257-86409258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs150474744	chr12:86409276-86409277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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