Variant report

Variant	esv1754089
Chromosome Location	chr10:19944498-19944500
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	chr10:19943628..19945748-chr10:19960912..19962861,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 40 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397738657	chr10:19944499-19944500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19928400-19945600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19937000-19945400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19937400-19945600	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19941000-19948800	Weak transcription	Aorta	Aorta
5	chr10:19942400-19944800	Enhancers	HSMMtube	muscle
6	chr10:19942400-19946400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr10:19942400-19947800	Enhancers	HSMM	muscle
8	chr10:19942600-19945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:19943000-19945000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:19943000-19945000	Enhancers	HMEC	breast
11	chr10:19943000-19945200	Enhancers	NHLF	lung
12	chr10:19943400-19945400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:19943400-19950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr10:19943800-19944800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:19943800-19946400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:19943800-19946600	Enhancers	NH-A	brain
17	chr10:19943800-19946800	Enhancers	Osteobl	bone
18	chr10:19944000-19946000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:19944200-19944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:19944400-19947000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:19944400-19949200	Weak transcription	NHEK	skin

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