Variant report

Variant	esv1851153
Chromosome Location	chr11:109097430-109156782
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	chr11:109138052-109138427	Hela-S3	cervix:	n/a	chr11:109138213-109138224 chr11:109138236-109138247
2	CEBPB	chr11:109138162-109138362	HepG2	liver:	n/a	chr11:109138213-109138224 chr11:109138236-109138247
3	CEBPB	chr11:109138067-109138403	A549	lung:	n/a	chr11:109138213-109138224 chr11:109138236-109138247
4	CTCF	chr11:109119485-109119537	GM20000	blood:	n/a	n/a
5	CTCF	chr11:109138180-109138330	NHEK	skin:	n/a	n/a
6	CTCF	chr11:109150476-109150516	GM13977	blood:	n/a	n/a
7	CTCF	chr11:109150527-109150568	GM13977	blood:	n/a	n/a
8	CTCF	chr11:109138200-109138350	SAEC	small airway:	n/a	n/a
9	CTCF	chr11:109138160-109138310	HMEC	breast:	n/a	n/a
10	CTCF	chr11:109112700-109112850	SAEC	small airway:	n/a	n/a
11	E2F4	chr11:109108556-109108730	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr11:109107589-109107636	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr11:109118915-109119038	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr11:109117821-109118279	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr11:109146892-109146984	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr11:109137920-109138634	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr11:109113747-109113820	MCF10A-Er-Src	breast:	n/a	n/a
18	EBF1	chr11:109146667-109147039	GM12878	blood:	n/a	chr11:109146876-109146887
19	EBF1	chr11:109146525-109147076	GM12878	blood:	n/a	chr11:109146876-109146887
20	EBF1	chr11:109146759-109147010	GM12878	blood:	n/a	chr11:109146876-109146887
21	EP300	chr11:109117837-109118232	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr11:109117708-109118253	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr11:109117520-109118362	SK-N-SH	brain:	n/a	n/a
24	EP300	chr11:109138078-109138358	Hela-S3	cervix:	n/a	n/a
25	FAM48A	chr11:109134976-109135037	GM12878	blood:	n/a	n/a
26	FOS	chr11:109138037-109138378	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr11:109112797-109112926	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr11:109138014-109138448	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr11:109137992-109138437	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr11:109112893-109112997	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	chr11:109120523-109120532	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:109112777-109112982	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:109117820-109118236	MCF10A-Er-Src	breast:	n/a	chr11:109118006-109118017 chr11:109118044-109118055
35	FOS	chr11:109120538-109120589	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:109117515-109118190	HUVEC	blood vessel:	n/a	chr11:109118006-109118017 chr11:109117705-109117714 chr11:109118044-109118055
37	FOS	chr11:109138061-109138487	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:109117821-109118259	MCF10A-Er-Src	breast:	n/a	chr11:109118006-109118017 chr11:109118044-109118055
39	FOS	chr11:109112781-109113029	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:109117826-109118155	MCF10A-Er-Src	breast:	n/a	chr11:109118006-109118017 chr11:109118044-109118055
41	FOSL2	chr11:109117668-109118336	SK-N-SH	brain:	n/a	chr11:109117705-109117714
42	GATA3	chr11:109117497-109118387	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr11:109117491-109118387	SK-N-SH	brain:	n/a	n/a
44	JUN	chr11:109114878-109115003	K562	blood:	n/a	n/a
45	JUN	chr11:109132678-109132809	K562	blood:	n/a	n/a
46	JUN	chr11:109129935-109130262	K562	blood:	n/a	n/a
47	JUND	chr11:109117540-109118312	SK-N-SH	brain:	n/a	chr11:109117705-109117714
48	JUND	chr11:109117593-109118368	SK-N-SH	brain:	n/a	chr11:109117705-109117714
49	KAT2A	chr11:109124694-109125055	GM12878	blood:	n/a	n/a
50	MAFF	chr11:109121997-109122326	HepG2	liver:	n/a	chr11:109122148-109122166

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

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

Extended variants
information (count: 2438 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2438 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1384113	chr11:109097430-109097431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543876218	chr11:109097453-109097454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562359335	chr11:109097463-109097464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561566085	chr11:109097474-109097475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577379860	chr11:109097483-109097484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150391860	chr11:109097523-109097524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560395569	chr11:109097565-109097566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530297592	chr11:109097574-109097575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528519462	chr11:109097614-109097615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115330709	chr11:109097615-109097616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562189467	chr11:109097624-109097625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529426530	chr11:109097695-109097696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551058091	chr11:109097714-109097715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569664921	chr11:109097772-109097773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112897514	chr11:109097800-109097801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183094439	chr11:109097801-109097802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377243340	chr11:109097832-109097833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552192028	chr11:109097839-109097840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187019765	chr11:109097846-109097847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138218839	chr11:109097850-109097851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370222473	chr11:109097864-109097865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192169827	chr11:109097912-109097913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141321344	chr11:109097918-109097919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554965113	chr11:109097921-109097922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566888190	chr11:109097924-109097925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537558478	chr11:109097952-109097953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555795468	chr11:109097954-109097955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577465480	chr11:109097985-109097986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145047305	chr11:109098026-109098027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184717022	chr11:109098027-109098028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572281493	chr11:109098054-109098055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1482040	chr11:109098057-109098058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562078793	chr11:109098058-109098059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138056166	chr11:109098066-109098067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189041601	chr11:109098102-109098103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193137003	chr11:109098115-109098116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79123276	chr11:109098173-109098174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185610020	chr11:109098179-109098180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77901360	chr11:109098265-109098266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12798697	chr11:109098331-109098332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142531691	chr11:109098381-109098382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527903535	chr11:109098399-109098400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568260669	chr11:109098403-109098404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528004545	chr11:109098408-109098409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536901594	chr11:109098441-109098442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148263149	chr11:109098451-109098452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116716485	chr11:109098459-109098460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189269926	chr11:109098487-109098488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555883094	chr11:109098505-109098506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571307004	chr11:109098532-109098533	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:72 , 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	chr11:109107600-109108000	Active TSS	A549	lung
3	chr11:109108600-109111000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:109111000-109112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:109112200-109113600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:109112600-109113400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:109112600-109113400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:109112600-109113600	Enhancers	HMEC	breast
9	chr11:109112600-109114600	Enhancers	NHEK	skin
10	chr11:109112800-109113000	Active TSS	Gastric	stomach
11	chr11:109112800-109113200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:109112800-109113200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:109112800-109113200	ZNF genes & repeats	Pancreas	Pancrea
14	chr11:109112800-109113200	Enhancers	Osteobl	bone
15	chr11:109113000-109113200	Flanking Active TSS	Gastric	stomach
16	chr11:109113200-109117000	Weak transcription	Osteobl	bone
17	chr11:109113400-109113800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:109113400-109117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:109113600-109117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:109113600-109117400	Weak transcription	HMEC	breast
21	chr11:109113800-109114400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:109114600-109117400	Weak transcription	NHEK	skin
23	chr11:109117000-109118200	Enhancers	Osteobl	bone
24	chr11:109117200-109118000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:109117200-109118200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:109117400-109117800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:109117400-109117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:109117400-109118000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:109117400-109118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:109117400-109118200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:109117400-109118200	Enhancers	NHEK	skin
32	chr11:109117400-109118400	Enhancers	HMEC	breast
33	chr11:109117800-109120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:109118000-109119400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:109118000-109119600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:109118200-109119600	Weak transcription	Osteobl	bone
37	chr11:109118200-109120200	Weak transcription	NHEK	skin
38	chr11:109118200-109120400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:109118400-109120600	Weak transcription	HMEC	breast
40	chr11:109119400-109121000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:109119600-109120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:109119600-109120800	Enhancers	Osteobl	bone
43	chr11:109119800-109120600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:109120200-109120800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:109120400-109121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:109120600-109120800	Enhancers	NHEK	skin
47	chr11:109120600-109121000	Enhancers	HMEC	breast
48	chr11:109121000-109133400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:109133400-109134200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:109133400-109134600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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