Variant report

Variant	nsv469989
Chromosome Location	chr11:101790671-101857758
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	chr11:101844840-101845284	HepG2	liver:	n/a	n/a
2	BCL3	chr11:101844794-101845385	A549	lung:	n/a	chr11:101845031-101845040
3	CEBPB	chr11:101830923-101831316	Hela-S3	cervix:	n/a	chr11:101831007-101831018 chr11:101831169-101831180
4	CEBPB	chr11:101795660-101795970	HepG2	liver:	n/a	chr11:101795830-101795841
5	CEBPB	chr11:101845823-101846102	A549	lung:	n/a	chr11:101845968-101845979
6	CEBPB	chr11:101795736-101795949	A549	lung:	n/a	chr11:101795830-101795841
7	CEBPB	chr11:101795757-101795991	K562	blood:	n/a	chr11:101795830-101795841
8	CEBPB	chr11:101793297-101793617	IMR90	lung:	n/a	n/a
9	CEBPB	chr11:101845825-101846155	HepG2	liver:	n/a	chr11:101845968-101845979
10	CEBPB	chr11:101830954-101831301	HepG2	liver:	n/a	chr11:101831007-101831018 chr11:101831169-101831180
11	CEBPB	chr11:101831001-101831243	A549	lung:	n/a	chr11:101831007-101831018 chr11:101831169-101831180
12	CEBPB	chr11:101793274-101793592	A549	lung:	n/a	n/a
13	CEBPB	chr11:101795709-101795946	H1-hESC	embryonic stem cell:	n/a	chr11:101795830-101795841
14	CEBPB	chr11:101855082-101855300	HepG2	liver:	n/a	chr11:101855233-101855244
15	CEBPB	chr11:101840641-101841205	HepG2	liver:	n/a	chr11:101841068-101841079
16	CEBPB	chr11:101840714-101841240	Hela-S3	cervix:	n/a	chr11:101841068-101841079
17	CEBPB	chr11:101840970-101841091	H1-hESC	embryonic stem cell:	n/a	chr11:101841068-101841079
18	CEBPB	chr11:101840699-101841229	IMR90	lung:	n/a	chr11:101841068-101841079
19	CEBPB	chr11:101795660-101796011	IMR90	lung:	n/a	chr11:101795830-101795841
20	CEBPB	chr11:101795727-101796001	Hela-S3	cervix:	n/a	chr11:101795830-101795841
21	CEBPB	chr11:101820752-101820923	HepG2	liver:	n/a	chr11:101820873-101820884
22	CEBPB	chr11:101820829-101820906	IMR90	lung:	n/a	chr11:101820873-101820884
23	CEBPB	chr11:101840888-101841230	A549	lung:	n/a	chr11:101841068-101841079
24	CEBPB	chr11:101793305-101793597	HepG2	liver:	n/a	n/a
25	CTCF	chr11:101845159-101845294	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr11:101845160-101845310	HCFaa	heart:	n/a	n/a
27	CTCF	chr11:101845145-101845332	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:101845092-101845373	A549	lung:	n/a	n/a
29	CTCF	chr11:101800240-101800390	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:101845138-101845314	HepG2	liver:	n/a	n/a
31	CTCF	chr11:101845220-101845370	HVMF	connective:	n/a	n/a
32	CTCF	chr11:101816329-101816382	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:101845180-101845330	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr11:101845120-101845270	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr11:101845140-101845290	WI-38	lung:	n/a	n/a
36	CTCF	chr11:101845260-101845410	RPTEC	kidney:	n/a	n/a
37	CTCF	chr11:101845160-101845310	AG10803	skin:	n/a	n/a
38	CTCF	chr11:101845140-101845317	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:101845200-101845350	BJ	skin:	n/a	n/a
40	CTCF	chr11:101844976-101845479	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr11:101829700-101829850	Caco-2	colon:	n/a	n/a
42	CTCF	chr11:101845140-101845290	HMF	breast:	n/a	n/a
43	CTCF	chr11:101845023-101845370	A549	lung:	n/a	n/a
44	CTCF	chr11:101845160-101845310	AG09319	gingival:	n/a	n/a
45	CTCF	chr11:101845142-101845315	T-47D	breast:	n/a	n/a
46	CTCF	chr11:101845180-101845330	HMEC	breast:	n/a	n/a
47	CTCF	chr11:101800360-101800510	Caco-2	colon:	n/a	n/a
48	CTCF	chr11:101845240-101845390	HCM	heart:	n/a	n/a
49	CTCF	chr11:101845080-101845230	HFF	foreskin:	n/a	n/a
50	CTCF	chr11:101845180-101845330	Caco-2	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101732957..101733938-chr11:101844765..101845588,3	MCF-7	breast:
2	chr11:101784427..101786681-chr11:101798448..101800177,2	MCF-7	breast:

Variant related genes	Relation type
ANGPTL5	TF binding region
KIAA1377	TF binding region
ENSG00000110318	chromatin interactions

Extended variants
information (count: 2285 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2285 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1441928	chr11:101790671-101790672	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146580231	chr11:101790702-101790703	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs199615379	chr11:101790789-101790790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569453518	chr11:101790791-101790792	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531976989	chr11:101790842-101790843	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs374307291	chr11:101790853-101790854	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs181203096	chr11:101790856-101790857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185532037	chr11:101790884-101790885	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573694169	chr11:101790929-101790930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553496406	chr11:101790938-101790939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560224812	chr11:101791006-101791007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570466770	chr11:101791032-101791033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61549048	chr11:101791035-101791036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11225064	chr11:101791041-101791042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542263104	chr11:101791042-101791043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555864913	chr11:101791075-101791076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573050647	chr11:101791089-101791090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540175473	chr11:101791118-101791119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558692011	chr11:101791157-101791158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34919214	chr11:101791224-101791225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150898202	chr11:101791228-101791229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572260918	chr11:101791235-101791236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189555104	chr11:101791240-101791241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576995506	chr11:101791242-101791243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77855382	chr11:101791246-101791247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79452306	chr11:101791248-101791249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546304761	chr11:101791321-101791322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562988012	chr11:101791324-101791325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5794145	chr11:101791352-101791353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182208653	chr11:101791365-101791366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113971747	chr11:101791366-101791367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185252888	chr11:101791367-101791368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149778091	chr11:101791389-101791390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114100180	chr11:101791396-101791397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373573386	chr11:101791412-101791413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145726246	chr11:101791432-101791433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149004348	chr11:101791453-101791454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539450810	chr11:101791463-101791464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11225065	chr11:101791476-101791477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546108038	chr11:101791488-101791489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564112404	chr11:101791496-101791497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535233780	chr11:101791534-101791535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191926839	chr11:101791537-101791538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368625401	chr11:101791548-101791549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528330970	chr11:101791579-101791580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34900023	chr11:101791593-101791594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534594450	chr11:101791629-101791630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546377165	chr11:101791714-101791715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61414150	chr11:101791743-101791744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147126104	chr11:101791747-101791748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	22183965	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
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101786200-101792000	Weak transcription	Small Intestine	intestine
2	chr11:101786200-101802400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:101787000-101801200	Weak transcription	Fetal Stomach	stomach
4	chr11:101787200-101791800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:101787200-101800200	Weak transcription	Fetal Lung	lung
6	chr11:101787200-101802000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:101787200-101820200	Weak transcription	Brain Substantia Nigra	brain
8	chr11:101787400-101798800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:101787400-101799200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:101787400-101800200	Weak transcription	Ovary	ovary
11	chr11:101787400-101800600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:101787400-101802600	Weak transcription	Brain Angular Gyrus	brain
13	chr11:101787400-101815600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:101787400-101818800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:101787400-101820400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:101787400-101827800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:101787400-101839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:101787400-101861200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:101787400-101866000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:101787600-101791400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:101787600-101809200	Weak transcription	A549	lung
22	chr11:101788200-101800000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:101788200-101800000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:101788200-101837800	Weak transcription	HUVEC	blood vessel
25	chr11:101788600-101793200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:101788600-101800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:101789000-101800200	Weak transcription	Aorta	Aorta
28	chr11:101789000-101800200	Weak transcription	Brain Anterior Caudate	brain
29	chr11:101789000-101815200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:101790600-101794800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:101791800-101792400	Strong transcription	Fetal Intestine Small	intestine
32	chr11:101792400-101795000	Weak transcription	Fetal Intestine Small	intestine
33	chr11:101793200-101793800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:101793800-101816000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:101794800-101795200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr11:101795200-101800000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:101798400-101829200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:101798800-101806800	Weak transcription	Primary B cells from cord blood	blood
39	chr11:101799200-101800600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:101799600-101800000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:101800000-101800400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr11:101800000-101800600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr11:101800000-101800600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr11:101800000-101800600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr11:101800000-101800800	Enhancers	HepG2	liver
46	chr11:101800200-101800400	ZNF genes & repeats	Aorta	Aorta
47	chr11:101800200-101800400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:101800200-101800400	ZNF genes & repeats	Fetal Lung	lung
49	chr11:101800200-101800400	ZNF genes & repeats	Ovary	ovary
50	chr11:101800200-101800600	ZNF genes & repeats	Brain Anterior Caudate	brain

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