Variant report

Variant	esv1212883
Chromosome Location	chr19:23835034-23835049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371144910	chr19:23835035-23835036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9676459	chr19:23835036-23835037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369457533	chr19:23835040-23835041	ZNF genes & repeats Weak 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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23828000-23838800	Weak transcription	Stomach Mucosa	stomach
2	chr19:23832200-23835600	Weak transcription	HSMM	muscle
3	chr19:23832600-23835400	Weak transcription	Fetal Brain Male	brain
4	chr19:23832600-23865800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:23833000-23835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:23833000-23835200	Weak transcription	Fetal Lung	lung
7	chr19:23833000-23836400	Weak transcription	Placenta	Placenta
8	chr19:23833000-23836600	Weak transcription	K562	blood
9	chr19:23833200-23836200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:23833400-23849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:23833600-23835200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:23833800-23835400	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:23833800-23836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:23833800-23849600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:23834000-23842600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr19:23834400-23836000	Weak transcription	NH-A	brain
17	chr19:23834400-23836600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:23834600-23839800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr19:23834600-23840800	Weak transcription	Brain Anterior Caudate	brain
20	chr19:23834800-23835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:23834800-23836400	Weak transcription	Fetal Thymus	thymus
22	chr19:23834800-23836400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:23834800-23838000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:23835000-23835200	Weak transcription	Fetal Stomach	stomach
25	chr19:23835000-23836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:23835000-23836600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:23835000-23846000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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