Variant report

Variant	esv1484417
Chromosome Location	chr19:53211590-53211591
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	chr19:53199473..53201886-chr19:53208932..53211700,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 67 )

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	rs71335673	chr19:53211591-53211592	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53194800-53218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:53202800-53217400	ZNF genes & repeats	Liver	Liver
3	chr19:53205600-53217400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:53206400-53212200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr19:53206600-53217800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:53206600-53227200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:53206800-53214000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:53207200-53211600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:53207200-53211800	ZNF genes & repeats	Thymus	Thymus
10	chr19:53207200-53212200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:53207200-53215400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:53207200-53217600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:53207200-53218800	Strong transcription	Placenta	Placenta
14	chr19:53207400-53212200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:53207400-53214600	Weak transcription	Stomach Mucosa	stomach
16	chr19:53207400-53216400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:53207400-53219400	Strong transcription	Dnd41	blood
18	chr19:53207600-53211800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr19:53207600-53212200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:53207600-53216000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:53207800-53211800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:53207800-53212200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:53207800-53212400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:53208000-53212000	Strong transcription	Brain Angular Gyrus	brain
25	chr19:53208000-53212400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr19:53208000-53212400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:53208000-53216400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
28	chr19:53208200-53211600	Strong transcription	Rectal Smooth Muscle	rectum
29	chr19:53208200-53211800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr19:53208200-53211800	Strong transcription	Left Ventricle	heart
31	chr19:53208200-53219400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr19:53208400-53212000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:53208400-53212400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr19:53208400-53216000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr19:53208400-53217400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:53208400-53218800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:53208600-53213200	Weak transcription	Pancreas	Pancrea
38	chr19:53208600-53213600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:53208600-53214000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr19:53208800-53212000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr19:53208800-53212000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:53208800-53213800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
43	chr19:53209000-53213000	Weak transcription	Brain Germinal Matrix	brain
44	chr19:53209400-53214600	Weak transcription	Fetal Brain Female	brain
45	chr19:53209400-53225800	Weak transcription	Hela-S3	cervix
46	chr19:53209600-53211800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:53209600-53213200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:53209600-53218200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:53209600-53219200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:53209600-53219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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