Variant report

Variant	esv1584750
Chromosome Location	chr19:21717794-21717795
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	rs12461317	chr19:21717794-21717795	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71176895	chr19:21717795-21717796	ZNF genes & repeats Strong transcription 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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21699600-21720800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21699600-21727600	ZNF genes & repeats	Liver	Liver
3	chr19:21701000-21733400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:21701600-21720400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:21702400-21721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21702800-21718600	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:21702800-21718600	Weak transcription	Fetal Heart	heart
8	chr19:21705000-21718600	Weak transcription	HSMM	muscle
9	chr19:21707000-21719000	Weak transcription	Stomach Mucosa	stomach
10	chr19:21709000-21722800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:21711600-21720400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:21712000-21719200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr19:21712400-21720400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
14	chr19:21712600-21720200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr19:21713400-21719600	Strong transcription	Ovary	ovary
16	chr19:21713400-21720200	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr19:21713400-21720400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:21713400-21720800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:21713400-21720800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:21713400-21721800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:21713400-21722000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr19:21713400-21722800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:21714200-21718600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:21714200-21718600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr19:21714200-21721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:21714400-21718400	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:21714400-21718800	Weak transcription	Brain Substantia Nigra	brain
28	chr19:21714400-21719000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:21714600-21723000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr19:21715200-21720600	ZNF genes & repeats	Fetal Lung	lung
31	chr19:21715200-21728600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:21715400-21718600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:21715400-21718600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:21715800-21719400	Weak transcription	Right Ventricle	heart
35	chr19:21715800-21720800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr19:21716200-21718600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:21716200-21720400	ZNF genes & repeats	Dnd41	blood
38	chr19:21716200-21722600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:21716400-21718000	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr19:21716400-21718800	ZNF genes & repeats	Fetal Stomach	stomach
41	chr19:21716400-21720000	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr19:21716400-21720600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr19:21716400-21720600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr19:21716600-21717800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr19:21716600-21720400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
46	chr19:21716600-21720800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr19:21716800-21718800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:21716800-21721000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr19:21717000-21720400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
50	chr19:21717200-21718400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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