Variant report

Variant	esv2169502
Chromosome Location	chr19:20021460-20021461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:20015522..20017242-chr19:20021366..20023292,2	MCF-7	breast:
2	chr19:20011096..20014012-chr19:20021090..20024486,4	K562	blood:

Variant related genes	Relation type
ENSG00000267268	chromatin interactions
ENSG00000184635	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 40 )

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	rs35098061	chr19:20021460-20021461	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs75833362	chr19:20021461-20021462	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Schizophrenia	20967226	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20012600-20030000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:20012800-20034200	Weak transcription	Pancreas	Pancrea
3	chr19:20012800-20034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:20012800-20034600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:20012800-20043400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:20013000-20022600	Weak transcription	Aorta	Aorta
7	chr19:20013000-20024200	Weak transcription	Ovary	ovary
8	chr19:20013000-20034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:20013000-20034600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:20013000-20034600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:20013000-20035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:20013000-20039600	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:20013200-20021800	Weak transcription	Fetal Heart	heart
14	chr19:20013200-20026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:20013200-20026200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:20013200-20027400	Weak transcription	HSMMtube	muscle
17	chr19:20013200-20027600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:20013200-20028600	Weak transcription	Adipose Nuclei	Adipose
19	chr19:20013200-20028800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:20013200-20034600	Weak transcription	Primary T cells from cord blood	blood
21	chr19:20013200-20043600	Weak transcription	Fetal Brain Male	brain
22	chr19:20013400-20027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:20013400-20033600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:20013400-20034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:20013400-20034000	Weak transcription	Placenta	Placenta
26	chr19:20013400-20034200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:20013400-20035800	Weak transcription	Osteobl	bone
28	chr19:20014000-20028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:20014000-20032600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:20014400-20027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:20014800-20027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:20014800-20034000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:20015400-20021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:20015800-20024400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:20015800-20033400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:20016000-20034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:20016000-20034800	Weak transcription	K562	blood
38	chr19:20016400-20034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:20016600-20033400	Weak transcription	Thymus	Thymus
40	chr19:20016800-20028800	ZNF genes & repeats	Dnd41	blood
41	chr19:20016800-20034000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:20017000-20022400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr19:20017400-20024800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:20018200-20022000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:20018200-20025000	Weak transcription	Fetal Lung	lung
46	chr19:20018200-20025400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr19:20018400-20022200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:20018400-20027400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:20018400-20027400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:20019000-20021800	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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