Variant report

Variant	esv1088507
Chromosome Location	chr19:19996097-19996101
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	chr19:19995776..19998692-chr19:20011015..20014104,3	K562	blood:

Variant related genes	Relation type
ENSG00000184635	chromatin interactions
ENSG00000267268	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 51 )

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	rs554839507	chr19:19996097-19996098	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368655586	chr19:19996098-19996099	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	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
Basal cell lymphoma	21115979	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
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Schizophrenia	20967226	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19977600-20006800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:19978600-19996800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:19978600-19999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:19978600-19999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:19978600-19999000	Weak transcription	Right Ventricle	heart
6	chr19:19978800-20007600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:19979000-20004000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:19979200-20007400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:19979400-19996400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:19979400-19996800	Weak transcription	Brain Substantia Nigra	brain
11	chr19:19979400-20008200	ZNF genes & repeats	Liver	Liver
12	chr19:19979600-19996800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:19980200-20001000	Weak transcription	Fetal Heart	heart
14	chr19:19982400-20000200	Weak transcription	Gastric	stomach
15	chr19:19983200-19996600	Weak transcription	Brain Anterior Caudate	brain
16	chr19:19984200-19999400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:19986800-20004800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:19988000-20001400	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:19988600-20003800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:19989000-19998200	Weak transcription	Ovary	ovary
21	chr19:19989600-20007400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:19990000-19999000	Weak transcription	HUVEC	blood vessel
23	chr19:19990800-19998600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:19990800-20007000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:19991000-19999800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr19:19991000-20006200	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr19:19991200-19996800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:19991800-20005600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr19:19992200-20006200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:19992400-19996800	Weak transcription	Fetal Brain Male	brain
31	chr19:19992400-19996800	Weak transcription	NH-A	brain
32	chr19:19992600-19996800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr19:19992600-19998000	Weak transcription	Placenta	Placenta
34	chr19:19993400-19996600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:19993400-19996600	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:19993400-19996800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:19993400-19996800	Weak transcription	HSMMtube	muscle
38	chr19:19993400-19998000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr19:19993400-19999000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:19993400-20000400	Weak transcription	Brain Angular Gyrus	brain
41	chr19:19993400-20001800	Weak transcription	HSMM	muscle
42	chr19:19993600-19996600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr19:19993600-19997200	Weak transcription	HepG2	liver
44	chr19:19994000-19998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:19994400-19996600	Weak transcription	Osteobl	bone
46	chr19:19994400-19998800	Weak transcription	NHDF-Ad	bronchial
47	chr19:19994600-19996800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:19994600-19997000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:19994600-19998200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:19994600-19998200	Weak transcription	Fetal Thymus	thymus

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