Variant report

Variant	esv1060325
Chromosome Location	chr19:21686802-21686811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 38 )

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	rs565489532	chr19:21686804-21686805	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs113745133	chr19:21686810-21686811	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188846576	chr19:21686811-21686812	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21658200-21687800	Weak transcription	Brain Substantia Nigra	brain
2	chr19:21666800-21687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:21669000-21687600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr19:21673400-21687800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:21674800-21687800	Weak transcription	Brain Hippocampus Middle	brain
6	chr19:21675800-21687200	Weak transcription	Primary T cells from cord blood	blood
7	chr19:21676000-21688000	Weak transcription	Fetal Stomach	stomach
8	chr19:21678000-21688000	Weak transcription	Thymus	Thymus
9	chr19:21679200-21688200	Weak transcription	Brain Angular Gyrus	brain
10	chr19:21680000-21687800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:21680000-21688200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:21680200-21687600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:21680200-21688200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:21681200-21688400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:21681400-21688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:21681600-21688200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:21681800-21687600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:21681800-21688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:21681800-21688000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:21681800-21688200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:21681800-21688400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:21683800-21688000	Weak transcription	Fetal Intestine Large	intestine
23	chr19:21686400-21687400	Active TSS	Liver	Liver
24	chr19:21686600-21687400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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