Variant report

Variant	esv1100481
Chromosome Location	chr15:77577268-77577274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 51 )

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	rs575358781	chr15:77577269-77577270	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549289902	chr15:77577271-77577272	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77520200-77578800	Weak transcription	Small Intestine	intestine
2	chr15:77528800-77579200	Weak transcription	Brain Angular Gyrus	brain
3	chr15:77541800-77589800	Weak transcription	Fetal Intestine Small	intestine
4	chr15:77542200-77580000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:77544400-77581000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:77544600-77589200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:77559400-77578800	Weak transcription	Ovary	ovary
8	chr15:77559600-77578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:77559800-77579400	Weak transcription	Brain Anterior Caudate	brain
10	chr15:77559800-77585200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:77562000-77580200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:77562200-77589600	Weak transcription	Primary T cells from cord blood	blood
13	chr15:77563400-77577400	Weak transcription	Fetal Kidney	kidney
14	chr15:77565400-77578800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:77567600-77580200	Weak transcription	Fetal Lung	lung
16	chr15:77568400-77578600	Weak transcription	Esophagus	oesophagus
17	chr15:77568800-77578000	Weak transcription	Thymus	Thymus
18	chr15:77570000-77579400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:77571800-77578800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:77571800-77579400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:77571800-77579600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:77571800-77585600	Weak transcription	Right Ventricle	heart
23	chr15:77572000-77578600	Weak transcription	Placenta	Placenta
24	chr15:77572000-77582000	Weak transcription	Left Ventricle	heart
25	chr15:77572200-77580000	Weak transcription	HSMMtube	muscle
26	chr15:77572600-77580800	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:77573000-77577800	Weak transcription	K562	blood
28	chr15:77573600-77578600	Weak transcription	Primary B cells from cord blood	blood
29	chr15:77573600-77580600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr15:77573600-77589400	Weak transcription	Fetal Stomach	stomach
31	chr15:77574600-77580800	Weak transcription	Fetal Brain Male	brain
32	chr15:77574600-77585200	Weak transcription	Psoas Muscle	Psoas
33	chr15:77575000-77585400	Weak transcription	NH-A	brain
34	chr15:77575200-77577800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:77575400-77577600	Weak transcription	Brain Substantia Nigra	brain
36	chr15:77575400-77580400	Weak transcription	Brain Hippocampus Middle	brain
37	chr15:77575400-77586000	Weak transcription	HepG2	liver
38	chr15:77575600-77579200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:77575600-77579400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:77575600-77580000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:77576000-77577600	Strong transcription	Dnd41	blood
42	chr15:77576000-77578000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:77576000-77578000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:77576200-77578200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:77576400-77577600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:77576400-77577800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:77576400-77577800	Weak transcription	Stomach Mucosa	stomach
48	chr15:77576400-77578000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:77576400-77578000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr15:77576400-77578000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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