Variant report

Variant	nsv559372
Chromosome Location	chr12:73567377-73601486
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	chr12:73575421-73575579	K562	blood:	n/a	n/a
2	CEBPB	chr12:73587091-73587347	HepG2	liver:	n/a	chr12:73587246-73587257 chr12:73587244-73587257 chr12:73587244-73587257 chr12:73587244-73587255 chr12:73587246-73587257
3	CEBPB	chr12:73575333-73575533	HepG2	liver:	n/a	n/a
4	CTCF	chr12:73601000-73601150	NHEK	skin:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
5	CTCF	chr12:73601040-73601190	NB4	blood:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
6	CTCF	chr12:73601044-73601147	MCF-7	breast:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
7	CTCF	chr12:73601040-73601190	WERI-Rb-1	eye:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
8	CTCF	chr12:73567852-73567898	GM13977	blood:	n/a	n/a
9	CTCF	chr12:73601060-73601210	HMEC	breast:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
10	CTCF	chr12:73601000-73601150	MCF-7	breast:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
11	CTCF	chr12:73601047-73601183	MCF-7	breast:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
12	CTCF	chr12:73601076-73601151	Gliobla	brain:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
13	CTCF	chr12:73601000-73601150	SAEC	small airway:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
14	CTCF	chr12:73601080-73601230	HEK293	kidney:	n/a	chr12:73601115-73601136 chr12:73601113-73601131
15	FOS	chr12:73597364-73597637	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr12:73597384-73597702	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr12:73597383-73597706	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr12:73597371-73597667	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA2	chr12:73592817-73593411	A549	lung:	n/a	n/a
20	GATA3	chr12:73592101-73592261	T-47D	breast:	n/a	n/a
21	GATA3	chr12:73597171-73597635	MCF-7	breast:	n/a	n/a
22	JUN	chr12:73595264-73595270	H1-hESC	embryonic stem cell:	n/a	n/a
23	KAP1	chr12:73579175-73579560	U2OS	brain:	n/a	n/a
24	KAP1	chr12:73579183-73579691	HEK293	kidney:	n/a	n/a
25	MAFF	chr12:73576340-73576622	HepG2	liver:	n/a	chr12:73576486-73576504
26	MAFK	chr12:73594686-73594880	HepG2	liver:	n/a	n/a
27	MAFK	chr12:73576336-73576633	IMR90	lung:	n/a	chr12:73576492-73576503 chr12:73576491-73576502 chr12:73576492-73576503 chr12:73576487-73576502
28	MAFK	chr12:73576326-73576629	HepG2	liver:	n/a	chr12:73576492-73576503 chr12:73576491-73576502 chr12:73576492-73576503 chr12:73576487-73576502
29	MAFK	chr12:73576322-73576652	HepG2	liver:	n/a	chr12:73576492-73576503 chr12:73576491-73576502 chr12:73576492-73576503 chr12:73576487-73576502
30	MAZ	chr12:73587230-73587375	HepG2	liver:	n/a	n/a
31	MXI1	chr12:73568062-73568142	GM12878	blood:	n/a	n/a
32	MYC	chr12:73584096-73584166	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr12:73585371-73585493	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:73583802-73583852	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr12:73581511-73582106	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr12:73583329-73583526	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr12:73581540-73582176	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr12:73582448-73582514	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr12:73583855-73584027	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr12:73584998-73585184	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr12:73595215-73595236	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:73597499-73597569	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr12:73593852-73593874	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr12:73568698-73568916	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr12:73600890-73601265	H1-hESC	embryonic stem cell:	n/a	chr12:73601114-73601133
46	RAD21	chr12:73601009-73601283	H1-hESC	embryonic stem cell:	n/a	chr12:73601114-73601133
47	RCOR1	chr12:73575171-73575352	K562	blood:	n/a	n/a
48	RCOR1	chr12:73575131-73575435	K562	blood:	n/a	n/a
49	REST	chr12:73581427-73582233	H1-neurons	neurons:	n/a	n/a
50	REST	chr12:73581240-73582519	H1-neurons	neurons:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFC3H1-9	chr12:73597595-73598133	ENSG00000257682
2	lnc-TRHDE-2	chr12:73601227-73602097	ENSG00000258123
3	lnc-TRHDE-2	chr12:73600112-73600202	ENSG00000258123
4	lnc-ZFC3H1-9	chr12:73600426-73600615	ENSG00000257682

Variant related genes	Relation type
ENSG00000257682	TF binding region

Extended variants
information (count: 272 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60969423	chr12:73575213-73575214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367983530	chr12:73575214-73575215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539941130	chr12:73575252-73575253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148378152	chr12:73575281-73575282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57113515	chr12:73575289-73575290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35779532	chr12:73575321-73575322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556885754	chr12:73575333-73575334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558588082	chr12:73577219-73577220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191912690	chr12:73577225-73577226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs545697905	chr12:73577245-73577246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs563810443	chr12:73577246-73577247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575820751	chr12:73577305-73577306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542846986	chr12:73577340-73577341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs4760775	chr12:73577345-73577346	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182491247	chr12:73577384-73577385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs185979911	chr12:73577426-73577427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564962443	chr12:73577449-73577450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs569590133	chr12:73577462-73577463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372549237	chr12:73577475-73577476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs66871010	chr12:73577501-73577502	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550887190	chr12:73577533-73577534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs67094997	chr12:73577547-73577548	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11837866	chr12:73577573-73577574	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548413866	chr12:73577599-73577600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549812215	chr12:73577600-73577601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370744302	chr12:73577841-73577842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575840940	chr12:73577889-73577890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190689746	chr12:73577892-73577893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374086437	chr12:73577895-73577896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568330573	chr12:73577928-73577929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35689327	chr12:73577930-73577931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571084051	chr12:73577931-73577932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553401476	chr12:73577950-73577951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545956496	chr12:73577954-73577955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59844872	chr12:73577955-73577956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199848622	chr12:73577956-73577957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540346436	chr12:73578012-73578013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369327971	chr12:73578036-73578037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572329618	chr12:73578055-73578056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73167508	chr12:73578103-73578104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541257202	chr12:73578140-73578141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562860678	chr12:73578145-73578146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139508813	chr12:73578184-73578185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548474706	chr12:73578282-73578283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367954878	chr12:73578322-73578323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547866143	chr12:73578340-73578341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566686912	chr12:73578407-73578408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527464919	chr12:73578417-73578418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143315656	chr12:73578512-73578513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570447330	chr12:73578532-73578533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73575200-73575400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:73577200-73577600	ZNF genes & repeats	Liver	Liver
3	chr12:73577800-73578600	Weak transcription	Liver	Liver
4	chr12:73578600-73579600	ZNF genes & repeats	Liver	Liver
5	chr12:73592000-73593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:73593000-73593200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:73593200-73594000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links