Variant report

Variant	esv2354801
Chromosome Location	chr11:8808895-8808896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 65 )

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	rs146607270	chr11:8808895-8808896	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
2	chr11:8795000-8809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:8798200-8810000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:8800600-8811400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:8800800-8822400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:8801000-8815600	Weak transcription	NHDF-Ad	bronchial
10	chr11:8801600-8820000	Weak transcription	HSMMtube	muscle
11	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
12	chr11:8801800-8814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:8802000-8816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:8802200-8819200	Weak transcription	NH-A	brain
15	chr11:8802400-8810600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:8802800-8816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:8803000-8815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:8803000-8820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:8804400-8811000	Enhancers	Colon Smooth Muscle	Colon
20	chr11:8805800-8811400	Weak transcription	Aorta	Aorta
21	chr11:8806000-8810800	Enhancers	Right Ventricle	heart
22	chr11:8806400-8810800	Enhancers	Fetal Heart	heart
23	chr11:8806600-8809400	Enhancers	Left Ventricle	heart
24	chr11:8806800-8809400	Enhancers	Pancreas	Pancrea
25	chr11:8807000-8811800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:8807200-8809800	Enhancers	Stomach Smooth Muscle	stomach
27	chr11:8807200-8811600	Weak transcription	Fetal Intestine Large	intestine
28	chr11:8807400-8809000	Weak transcription	Spleen	Spleen
29	chr11:8807400-8811400	Weak transcription	Lung	lung
30	chr11:8807600-8809600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:8807600-8814000	Weak transcription	Fetal Lung	lung
32	chr11:8807600-8815200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:8807800-8810200	Weak transcription	Small Intestine	intestine
34	chr11:8807800-8811000	Weak transcription	Liver	Liver
35	chr11:8807800-8814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:8808000-8809000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:8808000-8809000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:8808000-8809200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:8808000-8809200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:8808000-8809200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:8808000-8809200	Enhancers	Psoas Muscle	Psoas
42	chr11:8808000-8810400	Enhancers	Ovary	ovary
43	chr11:8808000-8810600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:8808200-8809000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:8808200-8809000	Strong transcription	Fetal Brain Male	brain
46	chr11:8808200-8809000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr11:8808200-8809000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:8808200-8809200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:8808200-8809200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:8808200-8809200	Enhancers	Fetal Kidney	kidney

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