Variant report

Variant	esv3520989
Chromosome Location	chr11:47059076-47064874
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	chr11:47063914-47063925	GM12878	blood:	n/a	n/a
5	FOSL2	chr11:47061252-47061433	HepG2	liver:	n/a	n/a
6	MAFK	chr11:47063813-47063910	HepG2	liver:	n/a	chr11:47063878-47063889 chr11:47063877-47063888
7	MYC	chr11:47060854-47060996	MCF-7	breast:	n/a	n/a
8	NR2F2	chr11:47058941-47059324	K562	blood:	n/a	n/a
9	PAX5	chr11:47060680-47061085	GM12878	blood:	n/a	n/a
10	PAX5	chr11:47060707-47061097	GM12878	blood:	n/a	n/a
11	PAX5	chr11:47060605-47061114	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:47059624-47059728	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:47060853-47060970	MCF-7	breast:	n/a	n/a
14	STAT3	chr11:47063878-47063991	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr11:47064588-47064620	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000271350	TF binding region

Extended variants
information (count: 159 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562468572	chr11:47059109-47059110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531190230	chr11:47059110-47059111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61896113	chr11:47059114-47059115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541859512	chr11:47059148-47059149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11525389	chr11:47059183-47059184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530206932	chr11:47059238-47059239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11530163	chr11:47059254-47059255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12223072	chr11:47059275-47059276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28495757	chr11:47059276-47059277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575737803	chr11:47059283-47059284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28734104	chr11:47059288-47059289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12225908	chr11:47059303-47059304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11525390	chr11:47059363-47059364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11525391	chr11:47059371-47059372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527394218	chr11:47059486-47059487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547644628	chr11:47059487-47059488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571078784	chr11:47059512-47059513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376153766	chr11:47059523-47059524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550482160	chr11:47059528-47059529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111348720	chr11:47059537-47059538	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs374610963	chr11:47059592-47059593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542179094	chr11:47059657-47059658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370119083	chr11:47059691-47059692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368772956	chr11:47059775-47059776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563504430	chr11:47059857-47059858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555734745	chr11:47059896-47059897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113160229	chr11:47059909-47059910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535134798	chr11:47059917-47059918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61896116	chr11:47059982-47059983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201435197	chr11:47060040-47060041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553654782	chr11:47060122-47060123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576602833	chr11:47060126-47060127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545625474	chr11:47060154-47060155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542967881	chr11:47060192-47060193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575937154	chr11:47060221-47060222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541421838	chr11:47060225-47060226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56177565	chr11:47060252-47060253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78965817	chr11:47060314-47060315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527370483	chr11:47060336-47060337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183078238	chr11:47060342-47060343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564204626	chr11:47060348-47060349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533558498	chr11:47060349-47060350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61896117	chr11:47060353-47060354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570314923	chr11:47060359-47060360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529600682	chr11:47060380-47060381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549073398	chr11:47060498-47060499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564267177	chr11:47060502-47060503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566084646	chr11:47060538-47060539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534734312	chr11:47060655-47060656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9300055	chr11:47060753-47060754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:15 , 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

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