Variant report

Variant	nsv972954
Chromosome Location	chr11:104920429-104931448
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	ARID3A	chr11:104922178-104922768	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:104927775-104928650	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:104922911-104923232	HepG2	liver:	n/a	chr11:104923066-104923077
4	CEBPB	chr11:104928443-104928828	HepG2	liver:	n/a	chr11:104928655-104928666 chr11:104928654-104928665
5	CEBPB	chr11:104926001-104926181	IMR90	lung:	n/a	chr11:104926116-104926127 chr11:104926116-104926129 chr11:104926060-104926071
6	CEBPB	chr11:104928569-104928699	IMR90	lung:	n/a	chr11:104928655-104928666 chr11:104928654-104928665
7	CEBPB	chr11:104928584-104928787	A549	lung:	n/a	chr11:104928655-104928666 chr11:104928654-104928665
8	CEBPB	chr11:104925947-104926232	HepG2	liver:	n/a	chr11:104926116-104926127 chr11:104926116-104926129 chr11:104926060-104926071
9	EP300	chr11:104922175-104922695	HepG2	liver:	n/a	n/a
10	EP300	chr11:104928126-104928681	HepG2	liver:	n/a	n/a
11	EP300	chr11:104922186-104922770	HepG2	liver:	n/a	n/a
12	EP300	chr11:104928098-104928649	HepG2	liver:	n/a	n/a
13	FOS	chr11:104925996-104926150	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:104926053-104926253	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXA1	chr11:104927769-104928632	HepG2	liver:	n/a	n/a
16	FOXA1	chr11:104922271-104922635	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:104922162-104922801	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:104922187-104922784	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:104927797-104928688	HepG2	liver:	n/a	n/a
20	FOXA1	chr11:104922195-104922668	HepG2	liver:	n/a	n/a
21	FOXA1	chr11:104927772-104928056	HepG2	liver:	n/a	n/a
22	FOXA1	chr11:104928130-104928591	HepG2	liver:	n/a	n/a
23	FOXA2	chr11:104922099-104922793	HepG2	liver:	n/a	n/a
24	FOXA2	chr11:104928123-104928616	HepG2	liver:	n/a	n/a
25	FOXA2	chr11:104927623-104928702	HepG2	liver:	n/a	n/a
26	FOXA2	chr11:104927850-104928075	HepG2	liver:	n/a	n/a
27	FOXA2	chr11:104922267-104922629	HepG2	liver:	n/a	n/a
28	GATA3	chr11:104923267-104923565	SH-SY5Y	brain:	n/a	n/a
29	HDAC2	chr11:104928104-104928531	HepG2	liver:	n/a	n/a
30	HDAC2	chr11:104922355-104922692	HepG2	liver:	n/a	n/a
31	HDAC2	chr11:104922284-104922741	HepG2	liver:	n/a	n/a
32	HNF4A	chr11:104928263-104928629	HepG2	liver:	n/a	chr11:104928453-104928465 chr11:104928455-104928470
33	HNF4A	chr11:104922239-104922667	HepG2	liver:	n/a	n/a
34	HNF4A	chr11:104927881-104928075	HepG2	liver:	n/a	chr11:104927973-104927988 chr11:104927974-104927982
35	JUN	chr11:104922014-104922551	HepG2	liver:	n/a	chr11:104922155-104922168 chr11:104922194-104922207
36	JUND	chr11:104921984-104922672	HepG2	liver:	n/a	n/a
37	JUND	chr11:104922357-104922648	HepG2	liver:	n/a	n/a
38	MAFF	chr11:104923260-104923584	HepG2	liver:	n/a	chr11:104923411-104923429
39	MAFF	chr11:104922374-104922633	HepG2	liver:	n/a	n/a
40	MAFF	chr11:104927523-104927998	HepG2	liver:	n/a	chr11:104927876-104927894
41	MAFK	chr11:104927898-104927923	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAFK	chr11:104927425-104927917	HepG2	liver:	n/a	chr11:104927567-104927576 chr11:104927562-104927577 chr11:104927567-104927577
43	MAFK	chr11:104922350-104922635	HepG2	liver:	n/a	n/a
44	MAFK	chr11:104923249-104923598	HepG2	liver:	n/a	chr11:104923413-104923428
45	MAFK	chr11:104922416-104922616	HepG2	liver:	n/a	n/a
46	MAFK	chr11:104926911-104927114	HepG2	liver:	n/a	chr11:104926998-104927009
47	MAFK	chr11:104923301-104923506	IMR90	lung:	n/a	chr11:104923413-104923428
48	MAFK	chr11:104923284-104923592	HepG2	liver:	n/a	chr11:104923413-104923428
49	MAZ	chr11:104920446-104920646	HepG2	liver:	n/a	n/a
50	MYBL2	chr11:104927998-104928589	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CARD16	TF binding region

Extended variants
information (count: 462 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:462 , 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	rs201644966	chr11:104920524-104920525	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529062721	chr11:104920533-104920534	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529484635	chr11:104920554-104920555	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549515295	chr11:104920559-104920560	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566164761	chr11:104920569-104920570	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535045819	chr11:104920626-104920627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs76596298	chr11:104920644-104920645	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568854360	chr11:104920686-104920687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184682909	chr11:104920689-104920690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369832753	chr11:104920698-104920699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs517184	chr11:104920723-104920724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536955665	chr11:104920745-104920746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111563545	chr11:104920756-104920757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78865539	chr11:104920782-104920783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573520846	chr11:104920787-104920788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542377405	chr11:104920789-104920790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552681871	chr11:104920827-104920828	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531487796	chr11:104920840-104920841	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572827330	chr11:104920852-104920853	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149798517	chr11:104920872-104920873	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145758638	chr11:104920876-104920877	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530480977	chr11:104920894-104920895	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188310341	chr11:104920895-104920896	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148939029	chr11:104920897-104920898	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377547353	chr11:104920898-104920899	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143646446	chr11:104920903-104920904	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180823452	chr11:104920907-104920908	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528567330	chr11:104920909-104920910	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551811533	chr11:104920935-104920936	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571554249	chr11:104920936-104920937	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537423702	chr11:104920940-104920941	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570848921	chr11:104920941-104920942	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539419278	chr11:104920944-104920945	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536068853	chr11:104920949-104920950	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151124452	chr11:104920951-104920952	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572955612	chr11:104920954-104920955	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538361735	chr11:104920963-104920964	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558594562	chr11:104920965-104920966	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186262656	chr11:104920968-104920969	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544212481	chr11:104920970-104920971	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190725926	chr11:104920971-104920972	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141453017	chr11:104920980-104920981	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181767597	chr11:104920985-104920986	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534897711	chr11:104920997-104920998	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528702780	chr11:104921013-104921014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199792643	chr11:104921014-104921015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559997699	chr11:104921027-104921028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528637840	chr11:104921038-104921039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370439593	chr11:104921041-104921042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551605832	chr11:104921091-104921092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104912600-104920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:104916800-104924400	Weak transcription	Left Ventricle	heart
3	chr11:104918000-104922200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:104918200-104921000	Weak transcription	Gastric	stomach
5	chr11:104918200-104925200	Weak transcription	Ovary	ovary
6	chr11:104920000-104920600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:104920200-104920600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:104920200-104920600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:104920400-104921400	Weak transcription	HepG2	liver
10	chr11:104920800-104921000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:104921400-104924600	Enhancers	HepG2	liver
12	chr11:104922200-104923400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:104923200-104923800	Enhancers	Dnd41	blood
14	chr11:104924400-104924600	Enhancers	Left Ventricle	heart
15	chr11:104924600-104927000	Weak transcription	HepG2	liver
16	chr11:104925600-104926400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:104926400-104931600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:104927000-104929200	Enhancers	HepG2	liver
19	chr11:104927000-104936200	Weak transcription	Small Intestine	intestine
20	chr11:104928400-104928800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:104929200-104930200	Weak transcription	HepG2	liver
22	chr11:104931000-104931200	Enhancers	HepG2	liver
23	chr11:104931000-104936800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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