Variant report

Variant	nsv819180
Chromosome Location	chr10:26489885-26491301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:26488026..26490324-chr10:26492162..26494858,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149244865	chr10:26489935-26489936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556321518	chr10:26490007-26490008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144641808	chr10:26490026-26490027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7069695	chr10:26490099-26490100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559474765	chr10:26490126-26490127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367683210	chr10:26490152-26490153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576010582	chr10:26490160-26490161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368674587	chr10:26490164-26490165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547670502	chr10:26490345-26490346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570985106	chr10:26490376-26490377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111728612	chr10:26490392-26490393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539648792	chr10:26490418-26490419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550422942	chr10:26490425-26490426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191567877	chr10:26490436-26490437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535443650	chr10:26490439-26490440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71401880	chr10:26490465-26490466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11014995	chr10:26490556-26490557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142579863	chr10:26490572-26490573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34428324	chr10:26490618-26490619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74690238	chr10:26490620-26490621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74552359	chr10:26490635-26490636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71521672	chr10:26490636-26490637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535162845	chr10:26490647-26490648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557976403	chr10:26490661-26490662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577718121	chr10:26490690-26490691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543272209	chr10:26490708-26490709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563538529	chr10:26490751-26490752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574016626	chr10:26490780-26490781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542622572	chr10:26490799-26490800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559437963	chr10:26490943-26490944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74474962	chr10:26490981-26490982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551409279	chr10:26490994-26490995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184831009	chr10:26491005-26491006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533533922	chr10:26491020-26491021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16926674	chr10:26491081-26491082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542203455	chr10:26491123-26491124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189618366	chr10:26491150-26491151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555828455	chr10:26491151-26491152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11014996	chr10:26491152-26491153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548954246	chr10:26491186-26491187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140079685	chr10:26491188-26491189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534713969	chr10:26491227-26491228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16926677	chr10:26491269-26491270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571668181	chr10:26491273-26491274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151272032	chr10:26491298-26491299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21525872	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26474000-26491000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:26484800-26493400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:26486600-26493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:26491000-26491800	Enhancers	Pancreatic Islets	Pancreatic Islet

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