Variant report

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	rs146371348	chr19:21380988-21380989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373577783	chr19:21380989-21380990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550800276	chr19:21380990-21380991	Enhancers Weak transcription	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21370000-21382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr19:21370200-21381000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:21373200-21381800	Weak transcription	Dnd41	blood
4	chr19:21377800-21381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:21378000-21381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:21379200-21382400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr19:21380000-21381200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:21380200-21381800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr19:21380400-21381200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr19:21380400-21382200	Enhancers	K562	blood
11	chr19:21380600-21389600	Enhancers	Ovary	ovary
12	chr19:21380800-21381000	Enhancers	Placenta	Placenta
13	chr19:21380800-21382000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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