Variant report

Variant	esv2200261
Chromosome Location	chr19:23561453-23561457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 40 )

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	rs538915225	chr19:23561453-23561454	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23513200-23570400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:23524400-23570200	ZNF genes & repeats	Liver	Liver
3	chr19:23524600-23570000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
4	chr19:23544000-23576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:23549200-23568600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:23549200-23570200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:23549200-23577000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:23549600-23576000	Weak transcription	Hela-S3	cervix
9	chr19:23549800-23562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:23551600-23576400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:23552200-23562000	Weak transcription	Right Ventricle	heart
12	chr19:23552400-23562600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:23552800-23576000	ZNF genes & repeats	Dnd41	blood
14	chr19:23553000-23576400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr19:23553000-23576800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:23553000-23577000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr19:23554200-23567600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:23554800-23562000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:23555600-23562200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr19:23555600-23562600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:23555600-23562600	Weak transcription	Psoas Muscle	Psoas
22	chr19:23555600-23576800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:23555800-23561800	Weak transcription	Esophagus	oesophagus
24	chr19:23555800-23562400	Weak transcription	Spleen	Spleen
25	chr19:23555800-23562600	Weak transcription	Gastric	stomach
26	chr19:23556000-23562000	Weak transcription	Brain Angular Gyrus	brain
27	chr19:23556000-23562400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:23556000-23566600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:23556600-23562400	Weak transcription	Pancreas	Pancrea
30	chr19:23556800-23561800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:23556800-23561800	Weak transcription	NH-A	brain
32	chr19:23556800-23562400	Weak transcription	Brain Substantia Nigra	brain
33	chr19:23556800-23566000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:23557000-23561800	Weak transcription	Fetal Brain Male	brain
35	chr19:23557000-23561800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:23557000-23566200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:23557200-23561600	Weak transcription	Colonic Mucosa	Colon
38	chr19:23557200-23576600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:23557800-23563400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr19:23558200-23563000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
41	chr19:23558200-23563200	ZNF genes & repeats	GM12878-XiMat	blood
42	chr19:23558200-23573200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr19:23558600-23562400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:23558600-23569000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:23558800-23562600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:23559200-23570000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:23559400-23576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:23559600-23562000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:23559600-23562400	Weak transcription	Left Ventricle	heart
50	chr19:23559600-23563000	Strong transcription	Placenta	Placenta

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