Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18998369..19000630-chr10:19002071..19003757,2	MCF-7	breast:

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7098949	chr10:19002550-19002551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191404330	chr10:19002587-19002588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534764619	chr10:19002615-19002616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375157077	chr10:19002620-19002621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7071934	chr10:19002623-19002624	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75398350	chr10:19002657-19002658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545708108	chr10:19002671-19002672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16917693	chr10:19002710-19002711	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19001400-19003000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:19001600-19002600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:19001600-19002600	Enhancers	Fetal Intestine Large	intestine
4	chr10:19001800-19002600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:19001800-19002600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr10:19001800-19002600	Enhancers	NHDF-Ad	bronchial
7	chr10:19001800-19002600	Enhancers	NHEK	skin
8	chr10:19001800-19002600	Enhancers	Osteobl	bone
9	chr10:19001800-19002800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:19001800-19002800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:19001800-19002800	Enhancers	Hela-S3	cervix
12	chr10:19001800-19002800	Enhancers	HMEC	breast
13	chr10:19002000-19002600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr10:19002600-19008600	Weak transcription	Fetal Intestine Large	intestine

Quick Search: