Variant report

Variant	nsv524194
Chromosome Location	chr10:55137321-55146357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2133470	chr10:55137321-55137322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568826338	chr10:55137327-55137328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10508995	chr10:55137361-55137362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548222490	chr10:55137369-55137370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188834092	chr10:55137382-55137383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192610715	chr10:55137385-55137386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2173519	chr10:55137445-55137446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570341981	chr10:55137485-55137486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76117347	chr10:55137527-55137528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12359389	chr10:55137542-55137543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113046014	chr10:55137600-55137601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544299613	chr10:55137645-55137646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1909417	chr10:55137655-55137656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568693147	chr10:55137673-55137674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574970779	chr10:55137687-55137688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74134554	chr10:55137703-55137704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560664137	chr10:55137716-55137717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78012860	chr10:55137722-55137723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184266019	chr10:55137795-55137796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563044542	chr10:55137857-55137858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531309153	chr10:55137900-55137901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186801729	chr10:55137946-55137947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377729773	chr10:55137972-55137973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527365651	chr10:55138014-55138015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11003601	chr10:55138214-55138215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11003602	chr10:55138222-55138223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539250906	chr10:55138227-55138228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556392507	chr10:55138234-55138235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191669994	chr10:55138321-55138322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574956515	chr10:55138366-55138367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535775174	chr10:55138370-55138371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10825008	chr10:55138379-55138380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs74134556	chr10:55138429-55138430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10825009	chr10:55138439-55138440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554318008	chr10:55138467-55138468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575838092	chr10:55138471-55138472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578089690	chr10:55138473-55138474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577468729	chr10:55138508-55138509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183996027	chr10:55138550-55138551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531899229	chr10:55138560-55138561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542541356	chr10:55138561-55138562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78922745	chr10:55138574-55138575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74134558	chr10:55138684-55138685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs77028237	chr10:55138770-55138771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7899971	chr10:55138781-55138782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7910786	chr10:55138788-55138789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114225838	chr10:55138798-55138799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529116668	chr10:55138800-55138801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147790841	chr10:55138815-55138816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142542871	chr10:55138870-55138871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55130800-55141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:55139600-55140200	Enhancers	Fetal Intestine Small	intestine
3	chr10:55143800-55144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:55143800-55144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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