Variant report

Variant	esv2044466
Chromosome Location	chr19:21691502-21691503
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	chr19:21691065..21693260-chr19:21696883..21699244,2	MCF-7	breast:
2	chr19:21689678..21691656-chr19:21877431..21879636,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 38 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34788876	chr19:21691502-21691503	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21689200-21694200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:21689200-21702000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:21689200-21702000	Weak transcription	Stomach Mucosa	stomach
4	chr19:21689400-21691600	Weak transcription	Fetal Thymus	thymus
5	chr19:21689400-21691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:21689400-21693000	Weak transcription	Small Intestine	intestine
7	chr19:21689400-21693800	Weak transcription	NHLF	lung
8	chr19:21689400-21694800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:21689400-21695200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:21689400-21698400	Weak transcription	Placenta	Placenta
11	chr19:21689400-21701200	Weak transcription	HSMMtube	muscle
12	chr19:21689400-21701600	Weak transcription	Brain Substantia Nigra	brain
13	chr19:21689400-21701600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:21689400-21702000	Weak transcription	Left Ventricle	heart
15	chr19:21689400-21702000	Weak transcription	Right Ventricle	heart
16	chr19:21689600-21691600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr19:21689600-21692400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:21689600-21692600	Weak transcription	Fetal Brain Male	brain
19	chr19:21689600-21692800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:21689600-21693000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:21689600-21695000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:21689600-21700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:21689600-21701400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:21689600-21701600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:21689600-21702000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:21689800-21692400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:21689800-21693200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:21689800-21693400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr19:21689800-21694200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:21689800-21694800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr19:21689800-21695000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:21689800-21695600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:21689800-21696600	Weak transcription	Brain Anterior Caudate	brain
34	chr19:21689800-21697800	Weak transcription	Psoas Muscle	Psoas
35	chr19:21690000-21691600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:21690000-21691600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:21690000-21692000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:21690000-21693200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:21690000-21693400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr19:21690000-21694600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:21690000-21696200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr19:21690000-21701400	Weak transcription	Pancreas	Pancrea
43	chr19:21690000-21701600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:21690000-21701600	Weak transcription	Osteobl	bone
45	chr19:21690200-21692400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:21690200-21692800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:21690200-21693200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr19:21690200-21698600	Weak transcription	Fetal Kidney	kidney
49	chr19:21690200-21701600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:21690200-21701600	Weak transcription	Stomach Smooth Muscle	stomach

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