Variant report

Variant	esv2366825
Chromosome Location	chr11:9466936-9466937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9465547..9467985-chr11:9478686..9481606,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 62 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60115807	chr11:9466936-9466937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:9426200-9471600	Strong transcription	Dnd41	blood
13	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9430400-9468200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:9431800-9468800	Weak transcription	Stomach Mucosa	stomach
20	chr11:9434800-9470400	Strong transcription	Osteobl	bone
21	chr11:9435400-9470400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:9439400-9468200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:9439600-9467600	Strong transcription	Placenta	Placenta
24	chr11:9439600-9468000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:9439600-9472000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:9439800-9467000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:9439800-9468200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:9439800-9470200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:9439800-9470600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:9440000-9470800	Strong transcription	Fetal Thymus	thymus
31	chr11:9440200-9468200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:9440200-9468400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:9440200-9470400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:9441600-9468200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:9443600-9470200	Strong transcription	HSMM	muscle
36	chr11:9443800-9470200	Strong transcription	HUVEC	blood vessel
37	chr11:9445400-9467000	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:9445400-9468600	Strong transcription	Fetal Intestine Large	intestine
39	chr11:9445800-9467000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:9445800-9468200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:9450600-9468600	Strong transcription	Liver	Liver
42	chr11:9452800-9480000	Weak transcription	Fetal Brain Male	brain
43	chr11:9453400-9467000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:9453800-9470200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr11:9454200-9468000	Strong transcription	Adipose Nuclei	Adipose
46	chr11:9455000-9467000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr11:9455000-9467000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:9455000-9468200	Strong transcription	Left Ventricle	heart
49	chr11:9455200-9471600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:9455600-9467000	Strong transcription	Placenta Amnion	Placenta Amnion

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