Variant report

Variant	esv3424643
Chromosome Location	chr19:23329560-23329912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149874765	chr19:23329711-23329712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371369290	chr19:23329733-23329734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550026618	chr19:23329736-23329737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568345666	chr19:23329821-23329822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114509775	chr19:23329834-23329835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565904240	chr19:23329847-23329848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554039680	chr19:23329856-23329857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565501376	chr19:23329858-23329859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73031441	chr19:23329860-23329861	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23318000-23330000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:23318000-23332600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:23318400-23330000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr19:23318600-23330000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr19:23318600-23331200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr19:23318600-23333200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr19:23318800-23331000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:23321200-23330200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr19:23321400-23330800	Weak transcription	Ovary	ovary
10	chr19:23324400-23331200	Weak transcription	Fetal Heart	heart
11	chr19:23326000-23330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:23326200-23329600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:23326400-23329600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:23326400-23330000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:23326600-23330400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr19:23327600-23331000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:23327800-23329600	ZNF genes & repeats	HSMM	muscle
18	chr19:23327800-23329800	ZNF genes & repeats	Fetal Brain Female	brain
19	chr19:23328200-23329600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:23328400-23329600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:23328800-23330600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:23329600-23331200	Weak transcription	HSMM	muscle
23	chr19:23329800-23330600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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