Variant report

Variant	esv2378686
Chromosome Location	chr5:178507750-178507753
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	chr5:178487018..178488525-chr5:178506434..178508036,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177932	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 101 )

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	rs386695573	chr5:178507750-178507751	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557257546	chr5:178507752-178507753	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178488200-178511000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:178488400-178508400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr5:178488400-178511600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:178488400-178512000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:178488600-178517200	ZNF genes & repeats	Liver	Liver
6	chr5:178489400-178511400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr5:178490600-178517400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:178492200-178508400	ZNF genes & repeats	Fetal Lung	lung
9	chr5:178492600-178508000	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr5:178492600-178512200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr5:178492600-178513400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr5:178492800-178508200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr5:178492800-178511200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:178492800-178517200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:178492800-178517200	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr5:178498400-178511000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr5:178498600-178511400	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr5:178498600-178512000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:178498600-178512000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:178499600-178508200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:178499800-178508800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:178500400-178508400	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr5:178500600-178511800	ZNF genes & repeats	Fetal Brain Female	brain
24	chr5:178500600-178512400	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr5:178500800-178508200	ZNF genes & repeats	Ovary	ovary
26	chr5:178500800-178511200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
27	chr5:178501400-178508200	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr5:178502600-178508200	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr5:178502600-178508200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
30	chr5:178502600-178508200	ZNF genes & repeats	HSMM	muscle
31	chr5:178502600-178511200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr5:178502600-178511200	ZNF genes & repeats	Psoas Muscle	Psoas
33	chr5:178502800-178507800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr5:178502800-178508000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr5:178502800-178511200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
36	chr5:178503000-178508000	ZNF genes & repeats	NH-A	brain
37	chr5:178503000-178510600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:178503000-178511000	ZNF genes & repeats	Fetal Kidney	kidney
39	chr5:178503200-178508200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:178503200-178508200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:178503400-178508000	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr5:178506800-178507800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:178506800-178509600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:178506800-178509600	Weak transcription	Pancreas	Pancrea
45	chr5:178507000-178507800	Weak transcription	Aorta	Aorta
46	chr5:178507000-178507800	Weak transcription	Left Ventricle	heart
47	chr5:178507000-178508400	Weak transcription	Gastric	stomach
48	chr5:178507000-178509600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:178507000-178509600	Weak transcription	Fetal Stomach	stomach
50	chr5:178507000-178509600	Weak transcription	Lung	lung

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