Variant report

Variant	esv1134520
Chromosome Location	chr19:52887149-52887150
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	chr19:52881938..52883510-chr19:52886057..52888201,2	K562	blood:

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	rs398101268	chr19:52887150-52887151	ZNF genes & repeats Weak transcription Strong transcription	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
Adrenocortical carcinoma	18281524	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

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52873600-52888400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
2	chr19:52874000-52887200	ZNF genes & repeats	Fetal Intestine Large	intestine
3	chr19:52875600-52888600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr19:52876200-52888400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr19:52876200-52888800	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr19:52876200-52889000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
8	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:52876200-52889600	ZNF genes & repeats	Fetal Kidney	kidney
10	chr19:52876200-52889800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:52876200-52889800	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:52876200-52890000	ZNF genes & repeats	Ovary	ovary
13	chr19:52876200-52890600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:52876200-52890600	ZNF genes & repeats	Fetal Lung	lung
15	chr19:52876200-52890800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:52876200-52890800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr19:52876200-52890800	ZNF genes & repeats	Liver	Liver
18	chr19:52876200-52893400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr19:52876200-52893800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:52876200-52894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:52876200-52894000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:52876200-52894200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:52876200-52895000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr19:52876400-52888000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:52876400-52890600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr19:52876400-52891000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:52877400-52893800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:52877800-52889800	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr19:52877800-52894200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr19:52879000-52888800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr19:52879000-52889000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:52879000-52889800	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr19:52879000-52889800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:52879000-52890600	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr19:52879600-52890400	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr19:52880200-52889000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:52880200-52889200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr19:52880200-52890600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:52880400-52893800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr19:52882000-52890600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr19:52882600-52889000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
42	chr19:52882800-52889200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:52883400-52889000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr19:52884000-52889000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr19:52884600-52889000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr19:52884600-52889000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
47	chr19:52884600-52889800	ZNF genes & repeats	Dnd41	blood
48	chr19:52885000-52887800	ZNF genes & repeats	GM12878-XiMat	blood
49	chr19:52885600-52888400	Strong transcription	Placenta	Placenta
50	chr19:52885600-52889000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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