Variant report

Variant	nsv437677
Chromosome Location	chr10:55431082-55438490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs851452	chr10:55431082-55431083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545088584	chr10:55431083-55431084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565171388	chr10:55431105-55431106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530989729	chr10:55431159-55431160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146048607	chr10:55431216-55431217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558514167	chr10:55431234-55431235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78470839	chr10:55431242-55431243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76442248	chr10:55431243-55431244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186899430	chr10:55431258-55431259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs844094	chr10:55431264-55431265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1343012	chr10:55431271-55431272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1686708	chr10:55431276-55431277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191978814	chr10:55431340-55431341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183712138	chr10:55431350-55431351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570722387	chr10:55431460-55431461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558672944	chr10:55431493-55431494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113925255	chr10:55431553-55431554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531304616	chr10:55431558-55431559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537607503	chr10:55431561-55431562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs825793	chr10:55431591-55431592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540194977	chr10:55431619-55431620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533830946	chr10:55431637-55431638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552988458	chr10:55431645-55431646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572885585	chr10:55431650-55431651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61358536	chr10:55431657-55431658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575446745	chr10:55431669-55431670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189653381	chr10:55431711-55431712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182469791	chr10:55431887-55431888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11003756	chr10:55431952-55431953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561631184	chr10:55431954-55431955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530374930	chr10:55432030-55432031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547306778	chr10:55432042-55432043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560227996	chr10:55432050-55432051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566477866	chr10:55432087-55432088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532126607	chr10:55432090-55432091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376447549	chr10:55432180-55432181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1343013	chr10:55432193-55432194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568816377	chr10:55432225-55432226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538045913	chr10:55432251-55432252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373646895	chr10:55432257-55432258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74134732	chr10:55432268-55432269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74134733	chr10:55432275-55432276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535524647	chr10:55432303-55432304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533867429	chr10:55432305-55432306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529032751	chr10:55432323-55432324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200581141	chr10:55432324-55432325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553628366	chr10:55432325-55432326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187116934	chr10:55432375-55432376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555117278	chr10:55432402-55432403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112975481	chr10:55432413-55432414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55430200-55431800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:55430800-55432800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:55434400-55434800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr10:55437800-55438400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:55437800-55438600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:55437800-55439000	Enhancers	Fetal Lung	lung
7	chr10:55438000-55438400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:55438200-55438600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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