Variant report

Variant	esv3339950
Chromosome Location	chr10:112908146-112909281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564392530	chr10:112908167-112908168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373968335	chr10:112908253-112908254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184027838	chr10:112908255-112908256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576241694	chr10:112908257-112908258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531671933	chr10:112908268-112908269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543652125	chr10:112908283-112908284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148995697	chr10:112908294-112908295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535336016	chr10:112908308-112908309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547173361	chr10:112908313-112908314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78737357	chr10:112908331-112908332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369375220	chr10:112908341-112908342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373349058	chr10:112908343-112908344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536316569	chr10:112908345-112908346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72641330	chr10:112908370-112908371	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188381801	chr10:112908394-112908395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs118040300	chr10:112908424-112908425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539267235	chr10:112908432-112908433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576687512	chr10:112908433-112908434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540944596	chr10:112908436-112908437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540644698	chr10:112908445-112908446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557618409	chr10:112908448-112908449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143001084	chr10:112908485-112908486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559361205	chr10:112908495-112908496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542296240	chr10:112908496-112908497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151084965	chr10:112908519-112908520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141057859	chr10:112908525-112908526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145119846	chr10:112908526-112908527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566683712	chr10:112908533-112908534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533777680	chr10:112908536-112908537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191988270	chr10:112908591-112908592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115850558	chr10:112908662-112908663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55798249	chr10:112908663-112908664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547337814	chr10:112908664-112908665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137917909	chr10:112908708-112908709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140912366	chr10:112908721-112908722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144565372	chr10:112908734-112908735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562142902	chr10:112908810-112908811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569603658	chr10:112908811-112908812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138414453	chr10:112908835-112908836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558097220	chr10:112908868-112908869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182726946	chr10:112908874-112908875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149321698	chr10:112908876-112908877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143620970	chr10:112908920-112908921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187060126	chr10:112908946-112908947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573589024	chr10:112908964-112908965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10787308	chr10:112908968-112908969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs869244	chr10:112909105-112909106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
48	rs373641341	chr10:112909122-112909123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191701371	chr10:112909218-112909219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117545173	chr10:112909229-112909230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112906800-112908400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:112907000-112908800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr10:112907400-112908200	Enhancers	Psoas Muscle	Psoas
4	chr10:112907400-112908600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr10:112907800-112908200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:112907800-112908200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:112907800-112908200	Enhancers	Pancreas	Pancrea
8	chr10:112907800-112908200	Enhancers	Right Atrium	heart
9	chr10:112907800-112909400	Enhancers	Fetal Muscle Leg	muscle
10	chr10:112907800-112910800	Enhancers	Placenta	Placenta
11	chr10:112908000-112909400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:112908200-112911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:112908400-112911400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:112908600-112909000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:112909000-112909400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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