Variant report

Variant	esv2089478
Chromosome Location	chr10:116570741-116571200
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	chr10:116567584..116574580-chr10:116575101..116583231,11	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM160B1-3	chr10:116570684-116570929	NONHSAT016465

Variant related genes	Relation type
ENSG00000151553	chromatin interactions
UTP15	miRNA target sites

Extended variants
information (count: 16 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565237840	chr10:116570741-116570742	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs61867962	chr10:116570770-116570771	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs570469771	chr10:116570819-116570820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs188763246	chr10:116570835-116570836	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs542827139	chr10:116570934-116570935	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73363911	chr10:116570949-116570950	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373380502	chr10:116570967-116570968	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566015673	chr10:116570974-116570975	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138899523	chr10:116571007-116571008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576057935	chr10:116571038-116571039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548045145	chr10:116571100-116571101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569535183	chr10:116571105-116571106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149419530	chr10:116571133-116571134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367654329	chr10:116571134-116571135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs193066540	chr10:116571144-116571145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185836237	chr10:116571174-116571175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116556800-116572800	Weak transcription	Pancreas	Pancrea
2	chr10:116567600-116571800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr10:116568000-116572200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:116568600-116571600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:116568600-116571800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr10:116568800-116571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:116569000-116572200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:116569800-116580600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:116570400-116571000	Flanking Active TSS	GM12878-XiMat	blood
10	chr10:116570400-116571200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr10:116570400-116571600	Enhancers	Duodenum Mucosa	Duodenum
12	chr10:116570400-116571800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr10:116570400-116572000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr10:116570400-116572000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:116570600-116571000	Enhancers	Primary B cells from peripheral blood	blood
16	chr10:116570600-116571000	Enhancers	Primary hematopoietic stem cells	blood
17	chr10:116570600-116571600	Enhancers	Dnd41	blood
18	chr10:116570600-116572600	Enhancers	Fetal Thymus	thymus
19	chr10:116570600-116574000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:116570600-116575600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:116571000-116572200	Enhancers	GM12878-XiMat	blood
22	chr10:116571000-116580600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr10:116571200-116573000	Enhancers	Thymus	Thymus

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