Variant report

Variant	esv3358814
Chromosome Location	chr19:42699016-42699368
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	chr16:1920642..1922271-chr19:42698953..42700453,2	K562	blood:
2	chr19:42696224..42699166-chr19:42699583..42702405,3	K562	blood:

Variant related genes	Relation type
ENSG00000162039	chromatin interactions
ENSG00000028277	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 62 )

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	rs62119628	chr19:42699053-42699054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539299324	chr19:42699054-42699055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183693678	chr19:42699057-42699058	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141524912	chr19:42699136-42699137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189050499	chr19:42699181-42699182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557539055	chr19:42699184-42699185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377136844	chr19:42699239-42699240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373960113	chr19:42699240-42699241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542615246	chr19:42699243-42699244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560906904	chr19:42699247-42699248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs193271320	chr19:42699255-42699256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145619271	chr19:42699348-42699349	Weak transcription Enhancers	Chromatin interactive region	1 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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42681800-42703600	Weak transcription	Right Atrium	heart
2	chr19:42689000-42700400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:42690000-42700200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:42690200-42700200	Weak transcription	Primary B cells from cord blood	blood
7	chr19:42690200-42700400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:42690200-42701200	Weak transcription	Dnd41	blood
9	chr19:42696000-42699600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:42696200-42701200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:42696400-42699600	Weak transcription	Fetal Thymus	thymus
12	chr19:42696400-42700200	Weak transcription	Spleen	Spleen
13	chr19:42696400-42700400	Weak transcription	Thymus	Thymus
14	chr19:42696600-42699400	Weak transcription	Primary T cells from cord blood	blood
15	chr19:42696600-42699400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:42696600-42699400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:42696600-42700000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:42696600-42700200	Weak transcription	Placenta	Placenta
19	chr19:42696600-42700400	Weak transcription	Esophagus	oesophagus
20	chr19:42696600-42700400	Weak transcription	Pancreas	Pancrea
21	chr19:42696600-42700800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:42696600-42702400	Weak transcription	NHLF	lung
23	chr19:42696600-42702800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:42696600-42702800	Weak transcription	Small Intestine	intestine
25	chr19:42696600-42702800	Weak transcription	Osteobl	bone
26	chr19:42696600-42710000	Weak transcription	NH-A	brain
27	chr19:42696600-42712200	Weak transcription	Fetal Kidney	kidney
28	chr19:42696800-42699400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:42696800-42699600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:42696800-42700200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:42696800-42700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:42696800-42700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:42696800-42700200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr19:42696800-42700800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:42696800-42700800	Weak transcription	Fetal Intestine Large	intestine
36	chr19:42697000-42701000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:42697800-42699200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:42697800-42700200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:42697800-42700200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr19:42697800-42700200	Weak transcription	Fetal Intestine Small	intestine
41	chr19:42697800-42700200	Weak transcription	Gastric	stomach
42	chr19:42697800-42700200	Weak transcription	Lung	lung
43	chr19:42697800-42700400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:42697800-42700400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr19:42697800-42702400	Weak transcription	HepG2	liver
46	chr19:42697800-42702800	Weak transcription	Right Ventricle	heart
47	chr19:42697800-42706800	Weak transcription	Ovary	ovary
48	chr19:42697800-42708800	Weak transcription	NHDF-Ad	bronchial
49	chr19:42697800-42710400	Weak transcription	HSMMtube	muscle
50	chr19:42698000-42700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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