Variant report

Variant	nsv528116
Chromosome Location	chr10:18278063-18282427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7922102	chr10:18278063-18278064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528682980	chr10:18278073-18278074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540412621	chr10:18278099-18278100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150276592	chr10:18278108-18278109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12782151	chr10:18278168-18278169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554473840	chr10:18278174-18278175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550958305	chr10:18278188-18278189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569258465	chr10:18278205-18278206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530854859	chr10:18278224-18278225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192559684	chr10:18278262-18278263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185565183	chr10:18278275-18278276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549256054	chr10:18278314-18278315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188381921	chr10:18278329-18278330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58416516	chr10:18278408-18278409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534772608	chr10:18278410-18278411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552794590	chr10:18278415-18278416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193032968	chr10:18278431-18278432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138408235	chr10:18278434-18278435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185138741	chr10:18278435-18278436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11594776	chr10:18278453-18278454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188739134	chr10:18278491-18278492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34607936	chr10:18278537-18278538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200040442	chr10:18278547-18278548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111923463	chr10:18278570-18278571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181127963	chr10:18278585-18278586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183743588	chr10:18278586-18278587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540775957	chr10:18278602-18278603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565401871	chr10:18278622-18278623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188017424	chr10:18278653-18278654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182213343	chr10:18278654-18278655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544695753	chr10:18278659-18278660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28565353	chr10:18278668-18278669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187205421	chr10:18278694-18278695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149244348	chr10:18278696-18278697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191930211	chr10:18278704-18278705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140244847	chr10:18278715-18278716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1926738	chr10:18278722-18278723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528295216	chr10:18278757-18278758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546741079	chr10:18278774-18278775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372130907	chr10:18278796-18278797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1926737	chr10:18278825-18278826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115346733	chr10:18278826-18278827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182179602	chr10:18278847-18278848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574528399	chr10:18278967-18278968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2148596	chr10:18278982-18278983	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554968018	chr10:18279028-18279029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552011111	chr10:18279109-18279110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373137668	chr10:18279129-18279130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534209967	chr10:18279133-18279134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2148595	chr10:18279194-18279195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	19287155	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18273400-18278400	Weak transcription	NHDF-Ad	bronchial
2	chr10:18273600-18278800	Weak transcription	NHEK	skin
3	chr10:18273600-18279000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr10:18273600-18279000	Weak transcription	Osteobl	bone
5	chr10:18273600-18282000	Weak transcription	Hela-S3	cervix
6	chr10:18273800-18278800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:18276400-18280200	Enhancers	GM12878-XiMat	blood
8	chr10:18277400-18279800	Enhancers	Primary B cells from peripheral blood	blood
9	chr10:18277800-18278400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:18277800-18283000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:18278000-18280200	Enhancers	Primary B cells from cord blood	blood
12	chr10:18278400-18280400	Enhancers	NHDF-Ad	bronchial
13	chr10:18278800-18279800	Enhancers	NHLF	lung
14	chr10:18278800-18280000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:18278800-18280200	Enhancers	NHEK	skin
16	chr10:18279000-18280000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:18279000-18280000	Enhancers	Osteobl	bone
18	chr10:18279000-18280200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:18279200-18279800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:18279200-18279800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:18279200-18280000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:18279400-18280000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr10:18279600-18280000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:18279600-18280000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:18279600-18280000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:18279600-18280000	Enhancers	HSMM	muscle
27	chr10:18279600-18280000	Enhancers	NH-A	brain
28	chr10:18279800-18282200	Weak transcription	NHLF	lung
29	chr10:18280000-18282000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:18280000-18282200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:18280400-18282000	Weak transcription	NHDF-Ad	bronchial
32	chr10:18282000-18282600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:18282000-18282600	Enhancers	NHDF-Ad	bronchial
34	chr10:18282000-18283000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:18282000-18283000	Enhancers	Hela-S3	cervix
36	chr10:18282200-18282600	Enhancers	NHLF	lung
37	chr10:18282200-18282800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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