Variant report

Variant	esv1772487
Chromosome Location	chr19:43943583-43943589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:43942702..43944453-chr19:44007455..44009598,2	MCF-7	breast:
2	chr19:43942400..43947044-chr19:43967250..43970389,5	MCF-7	breast:
3	chr19:43942729..43944786-chr19:43970636..43972210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124466	chromatin interactions
ENSG00000176531	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71169238	chr19:43943584-43943585	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs57323132	chr19:43943586-43943587	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs56012630	chr19:43943587-43943588	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43937600-43946400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr19:43940600-43944800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr19:43941600-43944200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:43941600-43944200	Enhancers	Fetal Thymus	thymus
5	chr19:43941600-43944400	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:43941800-43943800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr19:43941800-43944000	Enhancers	Esophagus	oesophagus
8	chr19:43941800-43944000	Enhancers	Spleen	Spleen
9	chr19:43941800-43944200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:43941800-43944200	Enhancers	Thymus	Thymus
11	chr19:43942000-43944000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:43942000-43944200	Enhancers	Primary B cells from cord blood	blood
13	chr19:43942000-43944200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:43942000-43944200	Enhancers	Fetal Stomach	stomach
15	chr19:43942200-43944200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr19:43942400-43943800	Enhancers	Primary hematopoietic stem cells	blood
17	chr19:43942400-43943800	Enhancers	Fetal Muscle Trunk	muscle
18	chr19:43942400-43944000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:43942400-43944000	Enhancers	HSMMtube	muscle
20	chr19:43942400-43944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:43942600-43943600	Enhancers	Fetal Kidney	kidney
22	chr19:43942600-43943800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:43942600-43943800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr19:43942600-43943800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:43942600-43944000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr19:43942600-43944000	Enhancers	Fetal Muscle Leg	muscle
27	chr19:43942600-43944000	Enhancers	Gastric	stomach
28	chr19:43942600-43944000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr19:43942600-43944000	Enhancers	Stomach Mucosa	stomach
30	chr19:43942600-43944000	Enhancers	NHDF-Ad	bronchial
31	chr19:43942800-43944000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr19:43942800-43944000	Enhancers	NHLF	lung
33	chr19:43943000-43943600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr19:43943000-43943600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr19:43943000-43944000	Enhancers	Adipose Nuclei	Adipose
36	chr19:43943000-43944000	Enhancers	Left Ventricle	heart
37	chr19:43943200-43943600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:43943200-43943600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr19:43943200-43943600	Enhancers	Hela-S3	cervix
40	chr19:43943200-43943800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:43943200-43943800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr19:43943200-43943800	Weak transcription	Right Ventricle	heart
43	chr19:43943200-43944200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr19:43943200-43944200	Enhancers	A549	lung
45	chr19:43943200-43944200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr19:43943200-43944400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:43943200-43944400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:43943200-43944400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr19:43943200-43944400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:43943200-43944800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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