Variant report

Variant	esv19178
Chromosome Location	chr10:55294558-55296490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs431788	chr10:55294564-55294565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530647923	chr10:55294579-55294580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550852103	chr10:55294589-55294590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1487472	chr10:55294604-55294605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567491800	chr10:55294623-55294624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115595020	chr10:55294628-55294629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73239887	chr10:55294655-55294656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148956406	chr10:55294665-55294666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535086373	chr10:55294680-55294681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147558791	chr10:55294748-55294749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111236739	chr10:55294750-55294751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59286042	chr10:55294751-55294752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61862614	chr10:55294758-55294759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527324312	chr10:55294765-55294766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369919147	chr10:55294778-55294779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140654628	chr10:55294780-55294781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs418719	chr10:55294789-55294790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377643965	chr10:55294791-55294792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58036321	chr10:55294809-55294810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201233032	chr10:55294810-55294811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10825059	chr10:55294859-55294860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs583012	chr10:55294874-55294875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
23	rs80244255	chr10:55294907-55294908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185336485	chr10:55294926-55294927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10825060	chr10:55294933-55294934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552519706	chr10:55294976-55294977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs422296	chr10:55295059-55295060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs189319737	chr10:55295061-55295062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544683998	chr10:55295125-55295126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143696014	chr10:55295130-55295131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575387542	chr10:55295143-55295144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs437117	chr10:55295154-55295155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548395818	chr10:55295179-55295180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561139848	chr10:55295203-55295204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529919233	chr10:55295217-55295218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370218760	chr10:55295219-55295220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569994511	chr10:55295223-55295224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs366016	chr10:55295277-55295278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181898504	chr10:55295278-55295279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370670555	chr10:55295286-55295287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183502778	chr10:55295297-55295298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571658100	chr10:55295324-55295325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537559510	chr10:55295341-55295342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188228686	chr10:55295357-55295358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534250860	chr10:55295374-55295375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35367158	chr10:55295380-55295381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs595633	chr10:55295385-55295386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34640672	chr10:55295391-55295392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572504998	chr10:55295463-55295464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34038423	chr10:55295465-55295466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Dysmorphic features	21948486	CNVD
Epilepsy	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55289000-55315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:55295800-55296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:55296000-55296600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:55296400-55297200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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