Variant report

Variant	esv1743610
Chromosome Location	chr19:23841181-23841183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 39 )

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	rs58991088	chr19:23841182-23841183	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23832600-23865800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:23833400-23849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:23833800-23849600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:23834000-23842600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:23835000-23846000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:23835200-23841400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:23835200-23842400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr19:23835200-23843000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:23835200-23843200	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr19:23835200-23845200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr19:23835200-23845600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:23835200-23846400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:23835200-23846600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:23835200-23847400	ZNF genes & repeats	Fetal Lung	lung
15	chr19:23835200-23849800	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr19:23835200-23850400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:23835200-23856600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:23835200-23857200	ZNF genes & repeats	Fetal Brain Female	brain
19	chr19:23835400-23841400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr19:23835400-23842400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr19:23835400-23842800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr19:23835400-23846000	ZNF genes & repeats	A549	lung
23	chr19:23835400-23846600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr19:23835400-23849800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr19:23835400-23849800	ZNF genes & repeats	Liver	Liver
26	chr19:23835400-23849800	ZNF genes & repeats	Dnd41	blood
27	chr19:23835400-23849800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr19:23835400-23850000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:23835600-23841200	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr19:23835800-23841400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr19:23835800-23849800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr19:23836000-23843000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr19:23836000-23843600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr19:23836000-23846800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr19:23836000-23847000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:23836200-23842600	Strong transcription	Left Ventricle	heart
37	chr19:23836200-23842800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:23836200-23846000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr19:23836200-23847400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr19:23836200-23847600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr19:23836200-23849800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr19:23836200-23850000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr19:23836400-23841200	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr19:23836400-23841400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr19:23836400-23841400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:23836400-23842400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr19:23836400-23843200	Strong transcription	Fetal Thymus	thymus
48	chr19:23836400-23847200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
49	chr19:23836400-23847200	ZNF genes & repeats	GM12878-XiMat	blood
50	chr19:23836400-23848000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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