Variant report

Variant	esv3379434
Chromosome Location	chr10:519415-519579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146104290	chr10:519417-519418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567819873	chr10:519424-519425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138859207	chr10:519433-519434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377388960	chr10:519440-519441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534645886	chr10:519457-519458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4881334	chr10:519463-519464	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143010035	chr10:519465-519466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34085356	chr10:519492-519493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538795306	chr10:519497-519498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558521320	chr10:519504-519505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577809229	chr10:519535-519536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536702414	chr10:519542-519543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72774512	chr10:519547-519548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543293294	chr10:519551-519552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573272216	chr10:519552-519553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556998810	chr10:519553-519554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573737892	chr10:519555-519556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142797789	chr10:519569-519570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113406618	chr10:519575-519576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:436600-521200	Weak transcription	HepG2	liver
2	chr10:497800-530400	Weak transcription	Stomach Mucosa	stomach
3	chr10:501200-529200	Weak transcription	NHDF-Ad	bronchial
4	chr10:501400-530200	Weak transcription	A549	lung
5	chr10:504600-526400	Weak transcription	Right Atrium	heart
6	chr10:505200-526600	Weak transcription	Fetal Heart	heart
7	chr10:506000-521800	Weak transcription	Esophagus	oesophagus
8	chr10:506000-524200	Weak transcription	HSMM	muscle
9	chr10:513000-531400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:513600-519800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:513600-519800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:513600-520200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr10:513600-521400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:513600-522200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:513600-522200	Strong transcription	Fetal Muscle Leg	muscle
16	chr10:513600-522600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:513600-522600	Strong transcription	Fetal Intestine Small	intestine
18	chr10:513800-522000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:514200-521000	Strong transcription	HSMMtube	muscle
20	chr10:514200-522000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:514200-522600	Strong transcription	Fetal Stomach	stomach
22	chr10:514400-524600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:514600-522000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr10:514600-530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:514800-519600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:515000-520200	Strong transcription	Brain Germinal Matrix	brain
27	chr10:515200-522600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:515400-519800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr10:515400-530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr10:515600-519800	Strong transcription	Brain Hippocampus Middle	brain
31	chr10:515600-520000	Strong transcription	NHLF	lung
32	chr10:516000-520000	Strong transcription	Osteobl	bone
33	chr10:516200-519600	Strong transcription	Pancreas	Pancrea
34	chr10:516400-526600	Weak transcription	Fetal Brain Male	brain
35	chr10:517000-521800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr10:517000-524400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:517000-528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:517000-530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:517000-530400	Weak transcription	NH-A	brain
40	chr10:517000-530600	Weak transcription	Fetal Lung	lung
41	chr10:517000-536800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr10:517200-521200	Weak transcription	Placenta	Placenta
43	chr10:517200-526800	Weak transcription	Psoas Muscle	Psoas
44	chr10:517200-530000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr10:517200-530400	Weak transcription	Colonic Mucosa	Colon
46	chr10:517200-531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:517400-521800	Weak transcription	Spleen	Spleen
48	chr10:517400-522200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr10:517400-524400	Weak transcription	Lung	lung
50	chr10:517400-525800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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