Variant report

Variant	esv3416145
Chromosome Location	chr10:118214529-118214913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565741196	chr10:118214573-118214574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185313862	chr10:118214581-118214582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188994912	chr10:118214585-118214586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574873730	chr10:118214624-118214625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4751969	chr10:118214638-118214639	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181520731	chr10:118214641-118214642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528623753	chr10:118214650-118214651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184985148	chr10:118214702-118214703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577434220	chr10:118214727-118214728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546527554	chr10:118214747-118214748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72509440	chr10:118214862-118214863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10639896	chr10:118214863-118214864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201041793	chr10:118214864-118214865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564821434	chr10:118214880-118214881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Intellectual disability	21811512	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118191600-118216200	Weak transcription	Pancreas	Pancrea
2	chr10:118202000-118225400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:118202200-118224000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:118212400-118216800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr10:118212600-118214800	Weak transcription	NHEK	skin
6	chr10:118212600-118216600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr10:118212800-118218400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:118213400-118215000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:118214200-118225200	Strong transcription	HMEC	breast
10	chr10:118214800-118217200	Strong transcription	NHEK	skin

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