Variant report

Variant	esv3519751
Chromosome Location	chr19:37046109-37046532
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	chr19:37018112..37020979-chr19:37045108..37047267,3	K562	blood:
2	chr19:37019252..37020979-chr19:37045716..37047267,2	K562	blood:

Variant related genes	Relation type
ENSG00000228629	chromatin interactions
ENSG00000254004	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575479500	chr19:37046152-37046153	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2114287	chr19:37046159-37046160	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190744135	chr19:37046184-37046185	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs111875688	chr19:37046235-37046236	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528427162	chr19:37046236-37046237	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546696832	chr19:37046237-37046238	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561809443	chr19:37046389-37046390	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529465722	chr19:37046449-37046450	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367562804	chr19:37046480-37046481	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200302231	chr19:37046494-37046495	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201452307	chr19:37046495-37046496	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138804642	chr19:37046497-37046498	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37021400-37061600	ZNF genes & repeats	Liver	Liver
2	chr19:37022800-37061200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37023000-37061800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37023200-37048400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:37023200-37060200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:37023200-37061600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37023400-37048800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:37023400-37060000	ZNF genes & repeats	Fetal Lung	lung
9	chr19:37023400-37062000	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:37023400-37063000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:37023600-37061000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr19:37023800-37057800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:37023800-37058200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:37023800-37058200	ZNF genes & repeats	Dnd41	blood
15	chr19:37023800-37061600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:37025400-37052400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr19:37025600-37049000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr19:37025600-37053000	ZNF genes & repeats	Brain Anterior Caudate	brain
19	chr19:37025600-37061000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr19:37025600-37062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:37025800-37048000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:37025800-37048400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr19:37025800-37060200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr19:37027400-37054400	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr19:37027600-37049200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr19:37028600-37050800	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr19:37028600-37055000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr19:37028600-37061800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:37028800-37048800	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr19:37028800-37054400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr19:37029000-37060000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr19:37030600-37048600	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr19:37031400-37047800	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr19:37031400-37049600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr19:37031400-37056800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr19:37031400-37057800	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr19:37032800-37048000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr19:37033400-37047800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr19:37033400-37048400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
40	chr19:37033400-37051000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:37033600-37048000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:37033600-37048600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr19:37033800-37047600	ZNF genes & repeats	Fetal Kidney	kidney
44	chr19:37033800-37048000	ZNF genes & repeats	HSMMtube	muscle
45	chr19:37033800-37048400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
46	chr19:37034000-37054000	ZNF genes & repeats	A549	lung
47	chr19:37034000-37063000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:37034200-37052800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr19:37034200-37059600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr19:37034400-37047800	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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