Variant report

Variant	esv3334164
Chromosome Location	chr19:23405496-23405701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541367567	chr19:23405522-23405523	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183425731	chr19:23405533-23405534	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533185874	chr19:23405577-23405578	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10412126	chr19:23405580-23405581	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563650616	chr19:23405650-23405651	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187911370	chr19:23405677-23405678	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549204214	chr19:23405691-23405692	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23398000-23431600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:23399600-23425200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:23399600-23429000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:23400000-23414200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:23400000-23423600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:23400400-23430600	ZNF genes & repeats	Dnd41	blood
7	chr19:23400400-23432000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:23400600-23412600	ZNF genes & repeats	Liver	Liver
9	chr19:23400800-23405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:23401000-23407800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:23401000-23416200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr19:23401600-23417800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr19:23401800-23414200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:23401800-23428200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr19:23402000-23414200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:23402200-23409400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:23402200-23412600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr19:23402200-23414000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr19:23402200-23417800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr19:23402200-23419600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr19:23402200-23431400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:23402400-23408600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr19:23403200-23406600	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr19:23403400-23409200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr19:23403400-23410000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:23403400-23412600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:23403800-23410000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
28	chr19:23404000-23431200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:23404200-23407400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
30	chr19:23404200-23409400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr19:23404200-23417200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:23404400-23407000	ZNF genes & repeats	Fetal Heart	heart
33	chr19:23404400-23407000	ZNF genes & repeats	Fetal Kidney	kidney
34	chr19:23404400-23407600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:23404400-23407600	ZNF genes & repeats	NH-A	brain
36	chr19:23404400-23407800	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr19:23404400-23409200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:23404400-23409200	ZNF genes & repeats	Left Ventricle	heart
39	chr19:23404400-23409200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr19:23404400-23409400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:23404400-23409400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr19:23404400-23409600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr19:23404400-23410000	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr19:23404400-23414200	ZNF genes & repeats	Fetal Brain Female	brain
45	chr19:23404400-23414200	ZNF genes & repeats	Fetal Lung	lung
46	chr19:23404400-23414200	ZNF genes & repeats	HepG2	liver
47	chr19:23404600-23407200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
48	chr19:23404600-23407200	ZNF genes & repeats	Fetal Brain Male	brain
49	chr19:23404600-23407200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr19:23404600-23407400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood

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