Variant report

Variant	esv2157160
Chromosome Location	chr19:22242691-22242692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 41 )

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	rs541154172	chr19:22242691-22242692	ZNF genes & repeats Weak transcription Strong 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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22235800-22258000	Weak transcription	Aorta	Aorta
2	chr19:22235800-22258200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:22235800-22262200	Weak transcription	Gastric	stomach
4	chr19:22235800-22270400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:22236000-22244200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:22236000-22245800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:22236000-22247000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr19:22236000-22257200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:22236000-22258000	Weak transcription	Pancreas	Pancrea
10	chr19:22236200-22262400	Weak transcription	Ovary	ovary
11	chr19:22236400-22246600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:22236600-22247000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:22236800-22249800	Weak transcription	Thymus	Thymus
14	chr19:22236800-22252000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:22240000-22250200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:22240200-22252000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:22240800-22251800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:22241000-22244600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:22241200-22244800	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr19:22241400-22243400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:22241600-22243200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:22241600-22243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:22241600-22246000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr19:22241800-22243200	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr19:22242600-22242800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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