Variant report

Variant	esv2076195
Chromosome Location	chr10:117966438-117966850
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	chr10:117961150..117963998-chr10:117964355..117967004,2	MCF-7	breast:
2	chr10:117963018..117965720-chr10:117966514..117969218,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577781553	chr10:117966455-117966456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530222756	chr10:117966457-117966458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4636574	chr10:117966469-117966470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145538526	chr10:117966619-117966620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113326294	chr10:117966622-117966623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112022385	chr10:117966623-117966624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549807510	chr10:117966628-117966629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60629173	chr10:117966661-117966662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373794352	chr10:117966667-117966668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370002736	chr10:117966669-117966670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372879504	chr10:117966670-117966671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2463160	chr10:117966731-117966732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572078953	chr10:117966742-117966743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542733288	chr10:117966745-117966746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560911999	chr10:117966754-117966755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576060425	chr10:117966770-117966771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2577383	chr10:117966778-117966779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10749203	chr10:117966805-117966806	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533597372	chr10:117966839-117966840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551716113	chr10:117966846-117966847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:117955400-117966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:117956800-117967200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:117963000-117970600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:117963600-117968000	Weak transcription	Fetal Stomach	stomach
5	chr10:117966200-117969000	Enhancers	Liver	Liver
6	chr10:117966600-117967000	Enhancers	HepG2	liver
7	chr10:117966800-117967800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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