Variant report

Variant	nsv28122
Chromosome Location	chr11:4631882-4631883
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	EP300	chr11:4631849-4631942	K562	blood:	n/a	chr11:4631867-4631876 chr11:4631872-4631886
2	IKZF1	chr11:4631593-4631915	GM12878	blood:	n/a	n/a
3	SPI1	chr11:4631540-4631903	GM12878	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744
4	SPI1	chr11:4631507-4631982	HL-60	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744
5	SPI1	chr11:4631461-4631917	GM12878	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744
6	SPI1	chr11:4631585-4631887	GM12891	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744
7	YY1	chr11:4631818-4632077	GM12892	blood:	n/a	chr11:4631979-4631989
8	YY1	chr11:4631806-4632047	GM12878	blood:	n/a	chr11:4631979-4631989
9	YY1	chr11:4631827-4632039	GM12892	blood:	n/a	chr11:4631979-4631989

Variant related genes	Relation type
TRIM68	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5789334	chr11:4631882-4631883	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs74649702	chr11:4631883-4631884	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4630000-4633200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:4631000-4632000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr11:4631000-4632000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr11:4631200-4632000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:4631200-4632000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr11:4631200-4632000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:4631200-4632000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:4631200-4632000	Active TSS	Right Atrium	heart
9	chr11:4631200-4632000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:4631400-4632000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:4631400-4632000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr11:4631400-4632000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:4631400-4632000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:4631400-4632000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:4631400-4632000	Active TSS	Aorta	Aorta
16	chr11:4631400-4632000	Active TSS	Brain Angular Gyrus	brain
17	chr11:4631400-4632000	Active TSS	Duodenum Mucosa	Duodenum
18	chr11:4631400-4632000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:4631400-4632000	Active TSS	Stomach Smooth Muscle	stomach
20	chr11:4631400-4632000	Enhancers	Dnd41	blood
21	chr11:4631400-4632000	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:4631400-4632000	Active TSS	NHLF	lung
23	chr11:4631400-4632200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:4631400-4632200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:4631600-4632000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:4631600-4632000	Active TSS	Primary T cells fromperipheralblood	blood
27	chr11:4631600-4632000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:4631600-4632000	Active TSS	Adipose Nuclei	Adipose
29	chr11:4631600-4632000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:4631600-4632000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:4631600-4632000	Enhancers	Lung	lung
32	chr11:4631600-4632000	Active TSS	Ovary	ovary
33	chr11:4631600-4632000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:4631600-4632000	Enhancers	HUVEC	blood vessel
35	chr11:4631600-4632000	Active TSS	NHEK	skin
36	chr11:4631600-4632000	Active TSS	Osteobl	bone
37	chr11:4631600-4632200	Enhancers	Primary B cells from cord blood	blood
38	chr11:4631800-4632000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:4631800-4632000	Enhancers	Primary T cells from cord blood	blood
40	chr11:4631800-4632000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:4631800-4632000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:4631800-4632000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:4631800-4632200	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:4631800-4632200	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:4631800-4632200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:4631800-4632200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:4631800-4632200	Enhancers	NHDF-Ad	bronchial
48	chr11:4631800-4632400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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