Variant report

Variant	esv1030771
Chromosome Location	chr19:53206321-53206324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 66 )

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	rs560590143	chr19:53206322-53206323	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53194200-53207200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:53194600-53208400	Weak transcription	Hela-S3	cervix
3	chr19:53194600-53208800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:53194800-53207600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:53194800-53207600	Weak transcription	Brain Anterior Caudate	brain
6	chr19:53194800-53208400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:53194800-53218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:53195000-53207800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:53195000-53210600	Weak transcription	Fetal Stomach	stomach
10	chr19:53195200-53207200	Weak transcription	Brain Germinal Matrix	brain
11	chr19:53195200-53207400	Weak transcription	Dnd41	blood
12	chr19:53195200-53207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:53199600-53207800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:53199600-53208800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:53199800-53207400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:53202800-53209000	Weak transcription	Fetal Heart	heart
17	chr19:53202800-53217400	ZNF genes & repeats	Liver	Liver
18	chr19:53203200-53207600	Enhancers	HepG2	liver
19	chr19:53203200-53208200	Weak transcription	Left Ventricle	heart
20	chr19:53203400-53207400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:53203400-53207800	Weak transcription	Fetal Lung	lung
22	chr19:53203600-53207800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:53203600-53207800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:53203800-53208000	Weak transcription	Fetal Muscle Leg	muscle
25	chr19:53204200-53208200	Weak transcription	Colon Smooth Muscle	Colon
26	chr19:53204400-53206600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:53204400-53207600	Weak transcription	Adipose Nuclei	Adipose
28	chr19:53204400-53207800	Weak transcription	Brain Substantia Nigra	brain
29	chr19:53204400-53207800	Weak transcription	Fetal Kidney	kidney
30	chr19:53204600-53207200	Weak transcription	Placenta	Placenta
31	chr19:53204800-53208200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:53205200-53206400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:53205200-53207600	Weak transcription	Fetal Brain Male	brain
34	chr19:53205200-53208000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:53205400-53207600	Weak transcription	Fetal Brain Female	brain
36	chr19:53205400-53208000	Weak transcription	Brain Angular Gyrus	brain
37	chr19:53205400-53208000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:53205600-53206400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:53205600-53207200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:53205600-53217400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr19:53205800-53206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:53205800-53206800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:53205800-53208200	Weak transcription	Ovary	ovary
44	chr19:53206000-53206600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:53206000-53207800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:53206000-53208200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr19:53206000-53208400	Weak transcription	Pancreas	Pancrea
48	chr19:53206000-53210600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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