Variant report

Variant	nsv1053898
Chromosome Location	chr11:109075527-109140982
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	chr11:109138162-109138362	HepG2	liver:	n/a	chr11:109138213-109138224 chr11:109138236-109138247
2	CEBPB	chr11:109093060-109093402	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:109093162-109093293	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:109138052-109138427	Hela-S3	cervix:	n/a	chr11:109138213-109138224 chr11:109138236-109138247
5	CEBPB	chr11:109138067-109138403	A549	lung:	n/a	chr11:109138213-109138224 chr11:109138236-109138247
6	CTCF	chr11:109138160-109138310	HMEC	breast:	n/a	n/a
7	CTCF	chr11:109082940-109083090	Caco-2	colon:	n/a	n/a
8	CTCF	chr11:109112700-109112850	SAEC	small airway:	n/a	n/a
9	CTCF	chr11:109138200-109138350	SAEC	small airway:	n/a	n/a
10	CTCF	chr11:109119485-109119537	GM20000	blood:	n/a	n/a
11	CTCF	chr11:109138180-109138330	NHEK	skin:	n/a	n/a
12	CUX1	chr11:109081687-109081770	GM12878	blood:	n/a	n/a
13	E2F4	chr11:109107589-109107636	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr11:109137920-109138634	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr11:109108556-109108730	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr11:109078172-109078368	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr11:109118915-109119038	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr11:109117821-109118279	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr11:109113747-109113820	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr11:109117837-109118232	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr11:109117708-109118253	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr11:109117520-109118362	SK-N-SH	brain:	n/a	n/a
23	EP300	chr11:109138078-109138358	Hela-S3	cervix:	n/a	n/a
24	FAM48A	chr11:109134976-109135037	GM12878	blood:	n/a	n/a
25	FAM48A	chr11:109082437-109082566	GM12878	blood:	n/a	n/a
26	FOS	chr11:109117826-109118155	MCF10A-Er-Src	breast:	n/a	chr11:109118006-109118017 chr11:109118044-109118055
27	FOS	chr11:109077276-109077453	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr11:109078110-109078371	MCF10A-Er-Src	breast:	n/a	chr11:109078170-109078181
29	FOS	chr11:109117515-109118190	HUVEC	blood vessel:	n/a	chr11:109118006-109118017 chr11:109117705-109117714 chr11:109118044-109118055
30	FOS	chr11:109138061-109138487	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr11:109117824-109118232	MCF10A-Er-Src	breast:	n/a	chr11:109118006-109118017 chr11:109118044-109118055
32	FOS	chr11:109077944-109078359	HUVEC	blood vessel:	n/a	chr11:109078170-109078181
33	FOS	chr11:109112777-109112982	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:109112797-109112926	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:109120538-109120589	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:109078013-109078406	MCF10A-Er-Src	breast:	n/a	chr11:109078170-109078181
37	FOS	chr11:109077384-109077417	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:109138014-109138448	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr11:109120523-109120532	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:109112781-109113029	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr11:109117821-109118259	MCF10A-Er-Src	breast:	n/a	chr11:109118006-109118017 chr11:109118044-109118055
42	FOS	chr11:109117820-109118236	MCF10A-Er-Src	breast:	n/a	chr11:109118006-109118017 chr11:109118044-109118055
43	FOS	chr11:109112893-109112997	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr11:109078067-109078459	MCF10A-Er-Src	breast:	n/a	chr11:109078170-109078181
45	FOS	chr11:109137992-109138437	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr11:109138037-109138378	MCF10A-Er-Src	breast:	n/a	n/a
47	FOSL2	chr11:109117668-109118336	SK-N-SH	brain:	n/a	chr11:109117705-109117714
48	GATA3	chr11:109093742-109094416	SK-N-SH	brain:	n/a	chr11:109094036-109094043 chr11:109094031-109094047 chr11:109094036-109094043 chr11:109094034-109094044 chr11:109094031-109094047 chr11:109094034-109094043 chr11:109094036-109094043
49	GATA3	chr11:109093785-109094286	SK-N-SH	brain:	n/a	chr11:109094036-109094043 chr11:109094031-109094047 chr11:109094036-109094043 chr11:109094034-109094044 chr11:109094031-109094047 chr11:109094034-109094043 chr11:109094036-109094043
50	GATA3	chr11:109117497-109118387	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:109118774..109120383-chr11:109121444..109124055,2	K562	blood:
2	chr11:109118774..109120383-chr11:109121444..109124055,2	K562	blood:
3	chr11:109125816..109127319-chr11:109129668..109132140,2	K562	blood:
4	chr11:109125816..109127319-chr11:109129668..109132140,2	K562	blood:
5	chr11:109127805..109129868-chr11:109133707..109135749,2	K562	blood:

Variant related genes	Relation type
ENSG00000264997	TF binding region
ENSG00000264997	chromatin interactions

Extended variants
information (count: 2773 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2773 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534578065	chr11:109075535-109075536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537581415	chr11:109075592-109075593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189776528	chr11:109075614-109075615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142188575	chr11:109075636-109075637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567769437	chr11:109075673-109075674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541850149	chr11:109075709-109075710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538307557	chr11:109075743-109075744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556820075	chr11:109075758-109075759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183108091	chr11:109075772-109075773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375856933	chr11:109075850-109075851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538842784	chr11:109075878-109075879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557265422	chr11:109075900-109075901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145915207	chr11:109075903-109075904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554490930	chr11:109075973-109075974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147851576	chr11:109075979-109075980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141490143	chr11:109076066-109076067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542613635	chr11:109076189-109076190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10789719	chr11:109076350-109076351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77889497	chr11:109076364-109076365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543139798	chr11:109076378-109076379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556863497	chr11:109076420-109076421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564620653	chr11:109076423-109076424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143599346	chr11:109076426-109076427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540862321	chr11:109076428-109076429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559601249	chr11:109076453-109076454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200489638	chr11:109076454-109076455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549412557	chr11:109076455-109076456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73549136	chr11:109076456-109076457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142138839	chr11:109076461-109076462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71053825	chr11:109076462-109076463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80123271	chr11:109076463-109076464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201041054	chr11:109076470-109076471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398115811	chr11:109076471-109076472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375327433	chr11:109076472-109076473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539719545	chr11:109076510-109076511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370539391	chr11:109076566-109076567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188141923	chr11:109076584-109076585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553309998	chr11:109076632-109076633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147991063	chr11:109076685-109076686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191645341	chr11:109076720-109076721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554029504	chr11:109076726-109076727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112587456	chr11:109076795-109076796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536514836	chr11:109076823-109076824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183495225	chr11:109076826-109076827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188780937	chr11:109076831-109076832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543003144	chr11:109076840-109076841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192686435	chr11:109076844-109076845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576817161	chr11:109076848-109076849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367805503	chr11:109076908-109076909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541230485	chr11:109076913-109076914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Chronic lymphocytic leukemia	21546498	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
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
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
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
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:109068800-109108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:109079200-109079600	Enhancers	Fetal Brain Female	brain
3	chr11:109079400-109080000	Enhancers	Fetal Brain Male	brain
4	chr11:109080000-109080400	Weak transcription	Fetal Brain Male	brain
5	chr11:109080600-109080800	Enhancers	Fetal Brain Male	brain
6	chr11:109092600-109095600	Enhancers	Brain Germinal Matrix	brain
7	chr11:109093200-109095000	Enhancers	Fetal Brain Female	brain
8	chr11:109093600-109094800	Enhancers	Fetal Brain Male	brain
9	chr11:109107600-109108000	Active TSS	A549	lung
10	chr11:109108600-109111000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:109111000-109112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:109112200-109113600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:109112600-109113400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:109112600-109113400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:109112600-109113600	Enhancers	HMEC	breast
16	chr11:109112600-109114600	Enhancers	NHEK	skin
17	chr11:109112800-109113000	Active TSS	Gastric	stomach
18	chr11:109112800-109113200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:109112800-109113200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:109112800-109113200	ZNF genes & repeats	Pancreas	Pancrea
21	chr11:109112800-109113200	Enhancers	Osteobl	bone
22	chr11:109113000-109113200	Flanking Active TSS	Gastric	stomach
23	chr11:109113200-109117000	Weak transcription	Osteobl	bone
24	chr11:109113400-109113800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:109113400-109117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:109113600-109117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:109113600-109117400	Weak transcription	HMEC	breast
28	chr11:109113800-109114400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:109114600-109117400	Weak transcription	NHEK	skin
30	chr11:109117000-109118200	Enhancers	Osteobl	bone
31	chr11:109117200-109118000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:109117200-109118200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:109117400-109117800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:109117400-109117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:109117400-109118000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:109117400-109118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:109117400-109118200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:109117400-109118200	Enhancers	NHEK	skin
39	chr11:109117400-109118400	Enhancers	HMEC	breast
40	chr11:109117800-109120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:109118000-109119400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:109118000-109119600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:109118200-109119600	Weak transcription	Osteobl	bone
44	chr11:109118200-109120200	Weak transcription	NHEK	skin
45	chr11:109118200-109120400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:109118400-109120600	Weak transcription	HMEC	breast
47	chr11:109119400-109121000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:109119600-109120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:109119600-109120800	Enhancers	Osteobl	bone
50	chr11:109119800-109120600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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