Variant report

Variant	esv1593889
Chromosome Location	chr19:37221734-37221735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 57 )

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	rs57657771	chr19:37221735-37221736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
5	chr19:37197000-37226400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:37216200-37222000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:37216200-37226600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
8	chr19:37216200-37228600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:37216800-37225200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr19:37216800-37232400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:37217200-37229000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:37217400-37223800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
13	chr19:37218800-37224600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:37220200-37222800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
15	chr19:37220200-37253800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:37220400-37221800	ZNF genes & repeats	Left Ventricle	heart
17	chr19:37220400-37223400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
18	chr19:37220800-37222400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:37220800-37235200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:37221400-37222200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:37221400-37222400	Weak transcription	Ovary	ovary
22	chr19:37221400-37222800	Weak transcription	Aorta	Aorta
23	chr19:37221400-37224400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:37221400-37224400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:37221600-37222800	Weak transcription	Pancreas	Pancrea

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