Variant report

Variant	nsv1035807
Chromosome Location	chr12:21164694-21199589
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	chr12:21193722-21193901	H1-hESC	embryonic stem cell:	n/a	chr12:21193754-21193765
2	CEBPB	chr12:21193579-21193868	A549	lung:	n/a	chr12:21193754-21193765
3	CEBPB	chr12:21168774-21169104	HepG2	liver:	n/a	chr12:21168919-21168930
4	CEBPB	chr12:21193602-21193866	HepG2	liver:	n/a	chr12:21193754-21193765
5	CEBPB	chr12:21193668-21193806	K562	blood:	n/a	chr12:21193754-21193765
6	CEBPB	chr12:21168771-21169100	A549	lung:	n/a	chr12:21168919-21168930
7	CEBPB	chr12:21175930-21176170	HepG2	liver:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
8	CEBPB	chr12:21175943-21176096	H1-hESC	embryonic stem cell:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
9	CEBPB	chr12:21168858-21169067	H1-hESC	embryonic stem cell:	n/a	chr12:21168919-21168930
10	CEBPB	chr12:21193668-21193868	Hela-S3	cervix:	n/a	chr12:21193754-21193765
11	CTCF	chr12:21175783-21175863	GM20000	blood:	n/a	n/a
12	CTCF	chr12:21181472-21181505	Lung_OC	lung:	n/a	n/a
13	CUX1	chr12:21184160-21184328	GM12878	blood:	n/a	n/a
14	E2F4	chr12:21177315-21177683	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr12:21196773-21196889	MCF10A-Er-Src	breast:	n/a	n/a
16	IRF1	chr12:21171674-21171696	K562	blood:	n/a	n/a
17	JUND	chr12:21195384-21195690	HepG2	liver:	n/a	n/a
18	MAFK	chr12:21195494-21195612	HepG2	liver:	n/a	n/a
19	MAFK	chr12:21195466-21195647	HepG2	liver:	n/a	n/a
20	MAFK	chr12:21193686-21193756	HepG2	liver:	n/a	n/a
21	MAFK	chr12:21193636-21193703	HepG2	liver:	n/a	n/a
22	MAZ	chr12:21170236-21170248	HepG2	liver:	n/a	n/a
23	MYC	chr12:21176059-21176074	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr12:21197812-21197819	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr12:21190490-21190605	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:21171595-21171619	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:21195665-21195804	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:21171287-21171298	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:21170041-21170069	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:21175870-21175955	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr12:21172750-21172940	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr12:21185292-21185456	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr12:21171671-21172268	MCF10A-Er-Src	breast:	n/a	chr12:21171820-21171827
34	STAT3	chr12:21187334-21187451	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr12:21179309-21179464	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr12:21190995-21191127	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr12:21183679-21183871	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21193958..21195458-chr17:59872939..59874521,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257062	TF binding region
SLCO1B7	TF binding region

Extended variants
information (count: 471 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150970531	chr12:21171005-21171006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547598667	chr12:21171020-21171021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116851799	chr12:21171077-21171078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371912852	chr12:21171121-21171122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1910191	chr12:21171203-21171204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11045655	chr12:21171216-21171217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569382822	chr12:21171296-21171297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372098485	chr12:21171323-21171324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535094657	chr12:21171349-21171350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140826012	chr12:21171366-21171367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141370028	chr12:21171390-21171391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566057628	chr12:21171397-21171398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12307944	chr12:21171398-21171399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145983047	chr12:21171403-21171404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578117742	chr12:21171417-21171418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138883228	chr12:21171463-21171464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142913068	chr12:21171487-21171488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546303210	chr12:21171491-21171492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73066349	chr12:21171495-21171496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146302953	chr12:21171534-21171535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527624694	chr12:21171585-21171586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10841724	chr12:21171719-21171720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528514660	chr12:21171722-21171723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138705823	chr12:21171735-21171736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531998379	chr12:21171751-21171752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552094014	chr12:21171785-21171786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569444628	chr12:21171792-21171793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528931736	chr12:21171797-21171798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565422251	chr12:21171817-21171818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548612201	chr12:21171826-21171827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565329608	chr12:21171828-21171829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534574286	chr12:21171849-21171850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1995409	chr12:21171864-21171865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571884440	chr12:21171895-21171896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10505870	chr12:21171896-21171897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557575068	chr12:21171900-21171901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184993124	chr12:21171948-21171949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188630220	chr12:21171975-21171976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10505871	chr12:21172053-21172054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181063882	chr12:21172091-21172092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536428167	chr12:21172103-21172104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545357033	chr12:21172128-21172129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116068272	chr12:21172130-21172131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370918813	chr12:21172155-21172156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201210879	chr12:21172157-21172158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149357474	chr12:21172160-21172161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563137778	chr12:21172180-21172181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199946694	chr12:21172199-21172200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183641131	chr12:21172235-21172236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200269745	chr12:21172236-21172237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21171000-21172800	Weak transcription	Liver	Liver
2	chr12:21172800-21173600	Strong transcription	Liver	Liver
3	chr12:21173600-21176000	Weak transcription	Liver	Liver
4	chr12:21176000-21178200	Strong transcription	Liver	Liver
5	chr12:21178200-21178400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr12:21178200-21179800	Weak transcription	Liver	Liver
7	chr12:21179400-21179600	Enhancers	A549	lung
8	chr12:21179800-21180000	Strong transcription	Liver	Liver
9	chr12:21180000-21180200	ZNF genes & repeats	Liver	Liver
10	chr12:21180200-21180600	Weak transcription	Liver	Liver
11	chr12:21187400-21187800	Active TSS	Psoas Muscle	Psoas

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