Variant report

Variant	esv2564765
Chromosome Location	chr19:53753017-53753024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67551052	chr19:53753017-53753018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs60073585	chr19:53753018-53753019	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs2865240	chr19:53753019-53753020	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2865241	chr19:53753021-53753022	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:53735800-53756200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:53737400-53757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:53738800-53756600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr19:53739400-53755200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:53739600-53756200	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:53740000-53756400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:53740000-53756600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:53740000-53756800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:53740200-53756800	ZNF genes & repeats	Fetal Lung	lung
12	chr19:53740200-53757600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:53740400-53756800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr19:53743000-53756600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr19:53745200-53756600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:53747400-53753600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:53747400-53754600	Weak transcription	HSMMtube	muscle
18	chr19:53747600-53753400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:53747600-53753400	Weak transcription	Pancreas	Pancrea
20	chr19:53747600-53753600	Weak transcription	Thymus	Thymus
21	chr19:53747600-53754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:53747800-53753400	Weak transcription	Gastric	stomach
23	chr19:53747800-53753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:53747800-53753600	Weak transcription	Right Ventricle	heart
25	chr19:53747800-53755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:53747800-53757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:53748400-53757400	Weak transcription	Colonic Mucosa	Colon
28	chr19:53749600-53755800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr19:53749600-53756200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr19:53749800-53756600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:53750000-53757200	Weak transcription	HUVEC	blood vessel
32	chr19:53750200-53756600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:53750400-53754600	Weak transcription	Fetal Heart	heart
34	chr19:53750400-53755800	Strong transcription	HSMM	muscle
35	chr19:53750400-53759200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr19:53750600-53753400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:53750600-53753400	Weak transcription	Fetal Brain Male	brain
38	chr19:53750600-53753400	Weak transcription	Lung	lung
39	chr19:53750600-53756200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr19:53750600-53757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:53750800-53753400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:53750800-53753600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:53751000-53753400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:53751200-53757400	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr19:53751400-53753400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:53751600-53756000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:53751600-53756800	ZNF genes & repeats	Ovary	ovary
48	chr19:53751800-53756800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr19:53752000-53753400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:53752000-53757000	ZNF genes & repeats	Fetal Intestine Large	intestine

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