Variant report

Variant	esv1575192
Chromosome Location	chr19:23290276-23290277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 41 )

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	rs562917808	chr19:23290276-23290277	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs398034291	chr19:23290277-23290278	Weak transcription ZNF genes & repeats Strong transcription Enhancers	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23274600-23291400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:23274600-23291800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:23274600-23299800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:23276800-23291000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:23276800-23299400	Weak transcription	Right Ventricle	heart
6	chr19:23277400-23292000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:23277600-23291000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:23277600-23291200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:23278400-23292000	Weak transcription	HSMMtube	muscle
10	chr19:23278800-23299400	Weak transcription	Primary B cells from cord blood	blood
11	chr19:23279200-23299400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:23282000-23299600	Weak transcription	Fetal Kidney	kidney
13	chr19:23282200-23299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:23282800-23293800	Weak transcription	Fetal Intestine Large	intestine
15	chr19:23283000-23299600	Weak transcription	NHLF	lung
16	chr19:23283400-23290800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:23283400-23292400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:23283400-23299400	Weak transcription	Fetal Muscle Leg	muscle
19	chr19:23284400-23299400	Weak transcription	Fetal Lung	lung
20	chr19:23285000-23299200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:23285200-23299400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:23285200-23299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:23285200-23299600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:23285600-23299600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:23285600-23299600	Weak transcription	Fetal Stomach	stomach
26	chr19:23285600-23299800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:23285600-23299800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:23285800-23299200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:23285800-23299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:23286000-23299600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:23286000-23299600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:23287000-23291800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:23287800-23299400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:23288000-23290600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:23288400-23299400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:23289000-23298800	Weak transcription	Dnd41	blood
37	chr19:23289200-23293800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:23289600-23290800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:23290200-23290400	Enhancers	NH-A	brain

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