Variant report

Variant	nsv528140
Chromosome Location	chr10:116417012-116417547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17092237	chr10:116417012-116417013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185651081	chr10:116417057-116417058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545185397	chr10:116417088-116417089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111795981	chr10:116417093-116417094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17719647	chr10:116417143-116417144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527396106	chr10:116417146-116417147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549034631	chr10:116417215-116417216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560736275	chr10:116417281-116417282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148828753	chr10:116417311-116417312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550146570	chr10:116417361-116417362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11196841	chr10:116417367-116417368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143477100	chr10:116417393-116417394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148008495	chr10:116417421-116417422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181940247	chr10:116417441-116417442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185163420	chr10:116417477-116417478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577399216	chr10:116417487-116417488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140802168	chr10:116417492-116417493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145104679	chr10:116417510-116417511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375039549	chr10:116417512-116417513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559745521	chr10:116417522-116417523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114345800	chr10:116417539-116417540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1333682	chr10:116417547-116417548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116394400-116422600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:116406200-116422000	Weak transcription	Fetal Lung	lung
3	chr10:116408600-116422000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:116408600-116441400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:116408800-116427400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:116409600-116421200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:116409600-116423600	Weak transcription	Esophagus	oesophagus
8	chr10:116410800-116422000	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:116411000-116417400	Enhancers	Right Atrium	heart
10	chr10:116411400-116418800	Enhancers	Fetal Heart	heart
11	chr10:116412600-116423800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr10:116413400-116418000	Weak transcription	Psoas Muscle	Psoas
13	chr10:116413800-116422600	Weak transcription	Fetal Intestine Large	intestine
14	chr10:116414000-116422200	Weak transcription	Brain Anterior Caudate	brain
15	chr10:116415000-116422400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:116415200-116420400	Weak transcription	HepG2	liver
17	chr10:116415200-116422000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:116415200-116422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:116415600-116438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:116415800-116417800	Weak transcription	Left Ventricle	heart
21	chr10:116415800-116417800	Weak transcription	Lung	lung
22	chr10:116415800-116421200	Weak transcription	Pancreas	Pancrea
23	chr10:116416800-116418000	Enhancers	HUVEC	blood vessel
24	chr10:116417000-116417400	Weak transcription	Right Ventricle	heart
25	chr10:116417400-116417800	Weak transcription	Right Atrium	heart
26	chr10:116417400-116418200	Enhancers	Right Ventricle	heart

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