Variant report

Variant	nsv554206
Chromosome Location	chr11:47061100-47071897
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	chr11:47063584-47063778	K562	blood:	n/a	n/a
2	CEBPB	chr11:47063595-47063754	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr11:47061379-47061451	GM13976	blood:	n/a	n/a
4	CUX1	chr11:47069654-47069897	GM12878	blood:	n/a	n/a
5	CUX1	chr11:47063914-47063925	GM12878	blood:	n/a	n/a
6	EP300	chr11:47071769-47071916	GM12878	blood:	n/a	n/a
7	EP300	chr11:47066665-47066666	K562	blood:	n/a	n/a
8	FOSL2	chr11:47061252-47061433	HepG2	liver:	n/a	n/a
9	MAFF	chr11:47065718-47066028	HepG2	liver:	n/a	chr11:47065853-47065871
10	MAFF	chr11:47065746-47066040	K562	blood:	n/a	chr11:47065853-47065871
11	MAFK	chr11:47065735-47065975	K562	blood:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
12	MAFK	chr11:47065686-47066039	HepG2	liver:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
13	MAFK	chr11:47065700-47066046	IMR90	lung:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
14	MAFK	chr11:47065753-47066030	Hela-S3	cervix:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
15	MAFK	chr11:47063813-47063910	HepG2	liver:	n/a	chr11:47063878-47063889 chr11:47063877-47063888
16	MAFK	chr11:47065747-47065998	HepG2	liver:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
17	PAX5	chr11:47060605-47061114	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:47071032-47071168	MCF-7	breast:	n/a	n/a
19	POLR2A	chr11:47065251-47065315	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:47068921-47068956	MCF10A-Er-Src	breast:	n/a	n/a
21	RCOR1	chr11:47071895-47072136	K562	blood:	n/a	n/a
22	SPI1	chr11:47069587-47069906	GM12878	blood:	n/a	n/a
23	SPI1	chr11:47069626-47069812	GM12878	blood:	n/a	n/a
24	SPI1	chr11:47069317-47070040	GM12878	blood:	n/a	n/a
25	SPI1	chr11:47069572-47069935	GM12891	blood:	n/a	n/a
26	SPI1	chr11:47069557-47069889	GM12891	blood:	n/a	n/a
27	STAT3	chr11:47063878-47063991	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr11:47064588-47064620	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr11:47069423-47069545	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
C11orf49	TF binding region
ENSG00000271350	TF binding region

Extended variants
information (count: 283 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192589152	chr11:47061131-47061132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559826608	chr11:47061164-47061165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375747293	chr11:47061194-47061195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184830364	chr11:47061231-47061232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551406002	chr11:47061253-47061254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571369836	chr11:47061290-47061291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537165736	chr11:47061297-47061298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549540435	chr11:47061300-47061301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569814339	chr11:47061350-47061351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535325948	chr11:47061376-47061377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571152859	chr11:47061394-47061395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555626208	chr11:47061464-47061465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572299284	chr11:47061483-47061484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534564634	chr11:47061485-47061486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557795781	chr11:47061673-47061674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369395455	chr11:47061728-47061729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530671817	chr11:47061780-47061781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145987551	chr11:47061790-47061791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543564287	chr11:47061905-47061906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368360212	chr11:47061913-47061914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111947996	chr11:47061945-47061946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114485826	chr11:47061973-47061974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149321404	chr11:47062026-47062027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559990809	chr11:47062068-47062069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570022031	chr11:47062077-47062078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187687160	chr11:47062108-47062109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372311973	chr11:47062135-47062136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564962690	chr11:47062200-47062201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530843315	chr11:47062201-47062202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536411678	chr11:47062223-47062224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377312559	chr11:47062287-47062288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550645073	chr11:47062300-47062301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144460419	chr11:47062471-47062472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535637195	chr11:47062479-47062480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7113108	chr11:47062538-47062539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565924373	chr11:47062594-47062595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375711680	chr11:47062668-47062669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566850449	chr11:47062685-47062686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534931902	chr11:47062785-47062786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192294362	chr11:47062879-47062880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184305232	chr11:47062880-47062881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148396722	chr11:47062896-47062897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115562016	chr11:47062931-47062932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557006466	chr11:47062964-47062965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61896118	chr11:47063102-47063103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571058249	chr11:47063125-47063126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188746720	chr11:47063137-47063138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553307819	chr11:47063145-47063146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181345014	chr11:47063154-47063155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545277309	chr11:47063177-47063178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:47053400-47077600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:47055200-47062000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:47055400-47077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:47055600-47077800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:47056400-47073600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:47056600-47073800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:47057200-47074200	Weak transcription	Hela-S3	cervix
9	chr11:47058600-47074800	Weak transcription	Fetal Intestine Small	intestine
10	chr11:47061400-47082800	Weak transcription	Brain Angular Gyrus	brain
11	chr11:47062000-47062200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:47063000-47063200	Weak transcription	Pancreas	Pancrea
13	chr11:47063200-47063400	Enhancers	Pancreas	Pancrea
14	chr11:47064000-47077600	Weak transcription	Fetal Lung	lung
15	chr11:47064400-47065200	Enhancers	Fetal Stomach	stomach
16	chr11:47065000-47079000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:47065200-47073000	Weak transcription	Fetal Stomach	stomach
18	chr11:47066800-47067000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:47067000-47077200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:47068200-47079000	Weak transcription	Fetal Brain Male	brain
21	chr11:47068400-47092400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:47069000-47070000	Enhancers	GM12878-XiMat	blood
23	chr11:47069800-47070000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:47070200-47080000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:47070400-47079000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:47071200-47074400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:47071600-47089000	Weak transcription	Gastric	stomach

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