Variant report

Variant	esv2146389
Chromosome Location	chr19:53703995-53703996
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	chr19:53699014..53701688-chr19:53703459..53706126,2	K562	blood:

Variant related genes	Relation type
ENSG00000269051	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559860539	chr19:53703995-53703996	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538078281	chr19:53703996-53703997	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53700800-53704000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
2	chr19:53700800-53708200	Weak transcription	Fetal Heart	heart
3	chr19:53700800-53709200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:53701000-53704200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:53701000-53708800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:53701000-53709000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:53701000-53709200	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr19:53701000-53709600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:53701000-53710000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:53701200-53704600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:53701200-53705000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr19:53701200-53709600	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr19:53701200-53713200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:53701400-53704200	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:53701400-53704400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr19:53701400-53704400	Weak transcription	NHDF-Ad	bronchial
17	chr19:53701400-53706600	Weak transcription	Fetal Kidney	kidney
18	chr19:53701400-53706600	Weak transcription	Psoas Muscle	Psoas
19	chr19:53701400-53706800	Weak transcription	Fetal Brain Male	brain
20	chr19:53701400-53707000	Weak transcription	Brain Germinal Matrix	brain
21	chr19:53701400-53708200	Weak transcription	Fetal Brain Female	brain
22	chr19:53701400-53709600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
23	chr19:53701400-53710200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr19:53701400-53715200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr19:53701600-53709200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:53701600-53710200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:53701600-53715400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr19:53701600-53720200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr19:53701600-53724800	ZNF genes & repeats	Liver	Liver
30	chr19:53701600-53725000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr19:53701600-53725000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr19:53701800-53704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:53701800-53709000	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr19:53701800-53718400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:53701800-53725400	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr19:53702000-53704400	Weak transcription	Brain Angular Gyrus	brain
37	chr19:53702000-53704400	Weak transcription	Brain Anterior Caudate	brain
38	chr19:53702000-53704400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr19:53702000-53704800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:53702000-53706600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:53702200-53709000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:53702200-53709000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
43	chr19:53702200-53709200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:53702200-53710200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr19:53702200-53715200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
46	chr19:53702400-53704800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
47	chr19:53702400-53709600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr19:53702400-53724800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:53702600-53709200	ZNF genes & repeats	Placenta	Placenta
50	chr19:53703000-53705000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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