Variant report

Variant	esv1029821
Chromosome Location	chr11:48075500-48075501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48073485..48075927-chr11:48082055..48084574,2	MCF-7	breast:
2	chr11:48072169..48075662-chr11:48075736..48079290,4	MCF-7	breast:
3	chr11:47967015..47968589-chr11:48075080..48077424,2	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	rs35795755	chr11:48075501-48075502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Glioblastoma multiforme	21390271	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48065600-48076000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:48066000-48075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:48066000-48076800	Weak transcription	Thymus	Thymus
4	chr11:48070800-48083400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:48071000-48076000	Weak transcription	Adipose Nuclei	Adipose
6	chr11:48072200-48075600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:48072200-48075800	Enhancers	Primary B cells from cord blood	blood
8	chr11:48072400-48076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:48072400-48080600	Enhancers	Spleen	Spleen
10	chr11:48072600-48077000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:48073000-48076800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:48073200-48075800	Weak transcription	Fetal Thymus	thymus
13	chr11:48073400-48075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:48073600-48075600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:48073800-48076000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:48074000-48075800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:48074000-48075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:48074000-48075800	Weak transcription	Liver	Liver
19	chr11:48074000-48076800	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:48074000-48076800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:48074200-48075800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:48074200-48076400	Weak transcription	Aorta	Aorta
23	chr11:48074200-48076400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:48074200-48076800	Weak transcription	Fetal Stomach	stomach
25	chr11:48074200-48077000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:48074400-48075800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:48074400-48075800	Weak transcription	Fetal Kidney	kidney
28	chr11:48074400-48075800	Weak transcription	Stomach Mucosa	stomach
29	chr11:48074400-48076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:48074400-48076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:48074400-48076000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:48074400-48076000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:48074400-48076400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:48074400-48076600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:48074400-48076600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:48074400-48076600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:48074400-48076800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:48074400-48076800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:48074400-48076800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:48074400-48076800	Weak transcription	Osteobl	bone
41	chr11:48074400-48077000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:48074400-48077000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:48074400-48077000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:48074400-48077000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:48074400-48077000	Weak transcription	Fetal Intestine Large	intestine
46	chr11:48074400-48081200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:48074600-48075600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:48074600-48075600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:48074600-48075600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:48074600-48075600	Weak transcription	A549	lung

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