Variant report

Variant	nsv7720
Chromosome Location	chr11:27071999-27080697
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	chr11:27076369-27077106	HepG2	liver:	n/a	n/a
2	BHLHE40	chr11:27076685-27077064	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:27076627-27077013	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:27076591-27076974	HepG2	liver:	n/a	n/a
5	CHD2	chr11:27076760-27076919	HepG2	liver:	n/a	n/a
6	CTCF	chr11:27076797-27076828	Kidney_OC	kidney:	n/a	n/a
7	EP300	chr11:27076683-27077122	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr11:27076618-27077090	HepG2	liver:	n/a	n/a
9	EP300	chr11:27076625-27077049	HepG2	liver:	n/a	n/a
10	EP300	chr11:27076646-27077049	HepG2	liver:	n/a	n/a
11	EP300	chr11:27076522-27077169	SK-N-SH	brain:	n/a	n/a
12	EP300	chr11:27076571-27077137	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr11:27076779-27076962	GM12878	blood:	n/a	n/a
14	FOSL2	chr11:27076642-27077095	HepG2	liver:	n/a	n/a
15	FOSL2	chr11:27076601-27077030	A549	lung:	n/a	n/a
16	FOSL2	chr11:27076583-27077078	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:27076578-27077007	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:27076475-27077030	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:27076492-27077120	HepG2	liver:	n/a	n/a
20	FOXA1	chr11:27076593-27077010	HepG2	liver:	n/a	n/a
21	FOXA2	chr11:27076684-27077083	A549	lung:	n/a	n/a
22	FOXA2	chr11:27076580-27077030	HepG2	liver:	n/a	n/a
23	FOXA2	chr11:27076678-27077073	A549	lung:	n/a	n/a
24	GATA3	chr11:27076441-27077220	A549	lung:	n/a	chr11:27076898-27076907 chr11:27076898-27076905 chr11:27076898-27076905 chr11:27076897-27076907 chr11:27076898-27076905 chr11:27076898-27076907 chr11:27076891-27076912
25	GATA3	chr11:27076535-27077164	SK-N-SH	brain:	n/a	chr11:27076898-27076907 chr11:27076898-27076905 chr11:27076898-27076905 chr11:27076897-27076907 chr11:27076898-27076905 chr11:27076898-27076907 chr11:27076891-27076912
26	GATA3	chr11:27076473-27077300	SK-N-SH	brain:	n/a	chr11:27076898-27076907 chr11:27076898-27076905 chr11:27076898-27076905 chr11:27076897-27076907 chr11:27076898-27076905 chr11:27077219-27077230 chr11:27076898-27076907 chr11:27076891-27076912
27	GATA3	chr11:27076547-27077177	MCF-7	breast:	n/a	chr11:27076898-27076907 chr11:27076898-27076905 chr11:27076898-27076905 chr11:27076897-27076907 chr11:27076898-27076905 chr11:27076898-27076907 chr11:27076891-27076912
28	GATA3	chr11:27076628-27077069	A549	lung:	n/a	chr11:27076898-27076907 chr11:27076898-27076905 chr11:27076898-27076905 chr11:27076897-27076907 chr11:27076898-27076905 chr11:27076898-27076907 chr11:27076891-27076912
29	GATA3	chr11:27079921-27080391	SK-N-SH	brain:	n/a	n/a
30	HDAC2	chr11:27076604-27077143	HepG2	liver:	n/a	chr11:27076682-27076696
31	HDAC2	chr11:27076519-27077142	HepG2	liver:	n/a	chr11:27076682-27076696
32	HNF4A	chr11:27076644-27077071	HepG2	liver:	n/a	chr11:27076849-27076861 chr11:27076848-27076863 chr11:27076847-27076862 chr11:27076848-27076863 chr11:27076844-27076866 chr11:27076848-27076863 chr11:27076849-27076861 chr11:27076849-27076862 chr11:27076848-27076863 chr11:27076848-27076863
33	HNF4A	chr11:27076564-27076977	HepG2	liver:	n/a	chr11:27076849-27076861 chr11:27076848-27076863 chr11:27076847-27076862 chr11:27076848-27076863 chr11:27076844-27076866 chr11:27076848-27076863 chr11:27076849-27076861 chr11:27076849-27076862 chr11:27076848-27076863 chr11:27076848-27076863
34	HNF4G	chr11:27076580-27077056	HepG2	liver:	n/a	chr11:27076849-27076861 chr11:27076848-27076863 chr11:27076848-27076863 chr11:27076844-27076866 chr11:27076784-27076799 chr11:27076848-27076863 chr11:27076849-27076861 chr11:27076849-27076862 chr11:27076848-27076863 chr11:27076846-27076861 chr11:27076848-27076863
35	HNF4G	chr11:27076541-27077127	HepG2	liver:	n/a	chr11:27076849-27076861 chr11:27076848-27076863 chr11:27076848-27076863 chr11:27076844-27076866 chr11:27076784-27076799 chr11:27076848-27076863 chr11:27076849-27076861 chr11:27076849-27076862 chr11:27076848-27076863 chr11:27076846-27076861 chr11:27076848-27076863
36	JUN	chr11:27076560-27077108	HepG2	liver:	n/a	n/a
37	JUND	chr11:27076580-27077106	SK-N-SH	brain:	n/a	n/a
38	JUND	chr11:27076691-27076904	HepG2	liver:	n/a	n/a
39	JUND	chr11:27076544-27077016	HepG2	liver:	n/a	n/a
40	MAFF	chr11:27076576-27076857	K562	blood:	n/a	chr11:27076712-27076730 chr11:27076711-27076725
41	MAFF	chr11:27076460-27077078	HepG2	liver:	n/a	chr11:27076712-27076730 chr11:27076711-27076725
42	MAFK	chr11:27076584-27076915	Hela-S3	cervix:	n/a	chr11:27076717-27076728 chr11:27076708-27076728 chr11:27076711-27076725 chr11:27076715-27076724 chr11:27076713-27076728 chr11:27076714-27076724 chr11:27076710-27076726
43	MAFK	chr11:27076459-27077061	HepG2	liver:	n/a	chr11:27076717-27076728 chr11:27076708-27076728 chr11:27076711-27076725 chr11:27076715-27076724 chr11:27076713-27076728 chr11:27076714-27076724 chr11:27076710-27076726
44	MAFK	chr11:27076487-27077020	HepG2	liver:	n/a	chr11:27076717-27076728 chr11:27076708-27076728 chr11:27076711-27076725 chr11:27076715-27076724 chr11:27076713-27076728 chr11:27076714-27076724 chr11:27076710-27076726
45	MAFK	chr11:27076531-27076899	IMR90	lung:	n/a	chr11:27076717-27076728 chr11:27076708-27076728 chr11:27076711-27076725 chr11:27076715-27076724 chr11:27076713-27076728 chr11:27076714-27076724 chr11:27076710-27076726
46	MAZ	chr11:27076622-27076919	HepG2	liver:	n/a	n/a
47	MBD4	chr11:27076573-27077125	HepG2	liver:	n/a	n/a
48	MXI1	chr11:27076645-27077086	HepG2	liver:	n/a	n/a
49	MYBL2	chr11:27076546-27077105	HepG2	liver:	n/a	n/a
50	MYBL2	chr11:27076462-27077100	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
BBOX1	TF binding region

Extended variants
information (count: 348 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180800115	chr11:27072057-27072058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369578372	chr11:27072063-27072064	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544230954	chr11:27072079-27072080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs147826911	chr11:27072080-27072081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs564003561	chr11:27072109-27072110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186436300	chr11:27072166-27072167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7128441	chr11:27072167-27072168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549702754	chr11:27072172-27072173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527918110	chr11:27072180-27072181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111818072	chr11:27072188-27072189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374155083	chr11:27072189-27072190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141199441	chr11:27072216-27072217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567639703	chr11:27072217-27072218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537800296	chr11:27072318-27072319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549772024	chr11:27072329-27072330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192191850	chr11:27072339-27072340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538753842	chr11:27072362-27072363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183570237	chr11:27072373-27072374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572917029	chr11:27072418-27072419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188729979	chr11:27072419-27072420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1596713	chr11:27072422-27072423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555655234	chr11:27072459-27072460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77348578	chr11:27072468-27072469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566836250	chr11:27072477-27072478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142570735	chr11:27072517-27072518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191476712	chr11:27072518-27072519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534203527	chr11:27072563-27072564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373891673	chr11:27072598-27072599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199614968	chr11:27072607-27072608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1596712	chr11:27072637-27072638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558937569	chr11:27072663-27072664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560206123	chr11:27072668-27072669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527851260	chr11:27072677-27072678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1596711	chr11:27072682-27072683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561204585	chr11:27072707-27072708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs531872955	chr11:27072747-27072748	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550106861	chr11:27072807-27072808	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs183296134	chr11:27072817-27072818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532555289	chr11:27072824-27072825	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150966504	chr11:27072855-27072856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566168641	chr11:27072869-27072870	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs76009431	chr11:27072876-27072877	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs187027663	chr11:27072905-27072906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140683813	chr11:27072913-27072914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11029802	chr11:27072914-27072915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538118732	chr11:27072957-27072958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191587528	chr11:27072971-27072972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150099496	chr11:27072972-27072973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11029803	chr11:27073007-27073008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533317117	chr11:27073024-27073025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:27063200-27080600	Weak transcription	Aorta	Aorta
2	chr11:27063600-27080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:27073800-27074000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:27074000-27074400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:27074000-27074400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:27074200-27074400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:27074400-27074600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:27074400-27076200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:27074400-27076600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:27075600-27077400	Enhancers	Fetal Heart	heart
11	chr11:27076000-27076200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:27076000-27076600	Enhancers	Liver	Liver
13	chr11:27076000-27077600	Enhancers	HepG2	liver
14	chr11:27076200-27076800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:27076200-27077200	Enhancers	Fetal Intestine Small	intestine
16	chr11:27076200-27077600	Enhancers	Fetal Intestine Large	intestine
17	chr11:27076400-27077200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:27076400-27077200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:27076400-27077200	Enhancers	Stomach Mucosa	stomach
20	chr11:27076400-27077200	Enhancers	NH-A	brain
21	chr11:27076600-27076800	Flanking Active TSS	Liver	Liver
22	chr11:27076600-27077200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:27076600-27077200	Enhancers	Adipose Nuclei	Adipose
24	chr11:27076800-27077000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:27076800-27077000	Active TSS	Liver	Liver
26	chr11:27076800-27077000	Enhancers	Gastric	stomach
27	chr11:27076800-27077200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:27076800-27077200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:27076800-27077200	Active TSS	Fetal Kidney	kidney
30	chr11:27076800-27077200	Enhancers	A549	lung
31	chr11:27077000-27077200	Flanking Active TSS	Liver	Liver
32	chr11:27077000-27080400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:27077200-27077400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:27077200-27078200	Active TSS	Liver	Liver
35	chr11:27077200-27080000	Weak transcription	Adipose Nuclei	Adipose
36	chr11:27077200-27080600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:27077400-27079200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:27078200-27078400	Flanking Active TSS	Liver	Liver
39	chr11:27078400-27079200	Enhancers	Liver	Liver
40	chr11:27079000-27079200	Enhancers	NH-A	brain
41	chr11:27079200-27079400	Flanking Active TSS	Liver	Liver
42	chr11:27079200-27079800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:27079400-27080000	Enhancers	Liver	Liver
44	chr11:27079600-27080000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:27079600-27080400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:27079600-27080400	Enhancers	NHDF-Ad	bronchial
47	chr11:27079800-27080600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:27080000-27080400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:27080000-27080400	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr11:27080000-27080400	Enhancers	Osteobl	bone

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