Variant report

Variant	esv3449530
Chromosome Location	chr19:44049707-44049909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44046417..44049052-chr19:44049423..44052069,2	MCF-7	breast:
2	chr19:44048671..44051065-chr19:44122727..44124528,2	K562	blood:
3	chr19:44049826..44052731-chr19:44057585..44060177,2	MCF-7	breast:
4	chr19:44048400..44050910-chr19:44143121..44145462,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269177	chromatin interactions
ENSG00000105767	chromatin interactions
ENSG00000131116	chromatin interactions
ENSG00000073050	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192502088	chr19:44049726-44049727	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540036987	chr19:44049764-44049765	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560256323	chr19:44049793-44049794	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3213390	chr19:44049846-44049847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185840269	chr19:44049847-44049848	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs25478	chr19:44049861-44049862	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs25477	chr19:44049874-44049875	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs25476	chr19:44049881-44049882	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571888796	chr19:44049882-44049883	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44038600-44054000	Weak transcription	Psoas Muscle	Psoas
2	chr19:44038800-44055800	Weak transcription	Stomach Mucosa	stomach
3	chr19:44039000-44049800	Strong transcription	Thymus	Thymus
4	chr19:44039200-44078600	Weak transcription	Hela-S3	cervix
5	chr19:44040200-44052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:44040200-44052200	Strong transcription	Fetal Muscle Leg	muscle
7	chr19:44040600-44050000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:44040600-44052000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:44040800-44051800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:44040800-44060800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:44041200-44049800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:44041400-44050200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:44041400-44050200	Strong transcription	Primary T cells from cord blood	blood
14	chr19:44041400-44050600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr19:44041600-44050000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:44041600-44051200	Strong transcription	Spleen	Spleen
17	chr19:44041600-44051400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr19:44041600-44051600	Strong transcription	Fetal Intestine Large	intestine
19	chr19:44041600-44052200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:44041800-44050400	Strong transcription	Ovary	ovary
21	chr19:44041800-44065200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:44042000-44051600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:44042000-44051600	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:44042200-44050400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:44042200-44050400	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr19:44042400-44049800	Strong transcription	Left Ventricle	heart
27	chr19:44042400-44050000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:44042400-44050200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr19:44042400-44050200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr19:44042400-44050200	Strong transcription	HSMM	muscle
31	chr19:44042400-44050400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr19:44042400-44051200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:44042400-44052000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr19:44042400-44058000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr19:44042600-44050000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:44042600-44052000	Strong transcription	Placenta	Placenta
37	chr19:44043200-44050200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:44043200-44051800	Strong transcription	Brain Hippocampus Middle	brain
39	chr19:44043200-44064600	Weak transcription	NHDF-Ad	bronchial
40	chr19:44043400-44051400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr19:44043400-44051400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:44043400-44051600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:44043400-44052200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:44043400-44058800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:44043400-44059000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr19:44043400-44059200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:44043600-44050000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr19:44043600-44050000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:44043600-44051600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:44043600-44052000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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