Variant report

Variant	esv3355604
Chromosome Location	chr15:54579902-54580916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534855853	chr15:54579929-54579930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145914470	chr15:54579968-54579969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4774691	chr15:54579982-54579983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73413846	chr15:54580005-54580006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190734799	chr15:54580011-54580012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181696990	chr15:54580079-54580080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559340108	chr15:54580082-54580083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146642167	chr15:54580096-54580097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114234144	chr15:54580156-54580157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529654721	chr15:54580158-54580159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141378073	chr15:54580159-54580160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186296824	chr15:54580224-54580225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143346463	chr15:54580232-54580233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552426139	chr15:54580253-54580254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191585803	chr15:54580279-54580280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182568040	chr15:54580318-54580319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535133604	chr15:54580339-54580340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554761390	chr15:54580353-54580354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574802432	chr15:54580404-54580405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568192492	chr15:54580417-54580418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187881767	chr15:54580438-54580439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557288841	chr15:54580462-54580463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148348189	chr15:54580467-54580468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190731699	chr15:54580508-54580509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559529064	chr15:54580518-54580519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74015121	chr15:54580527-54580528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540774960	chr15:54580567-54580568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183327699	chr15:54580578-54580579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529727752	chr15:54580579-54580580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141492477	chr15:54580595-54580596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575216172	chr15:54580611-54580612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16974442	chr15:54580675-54580676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565018911	chr15:54580692-54580693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56040137	chr15:54580693-54580694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397718280	chr15:54580703-54580704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200556908	chr15:54580704-54580705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11071066	chr15:54580786-54580787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs565926983	chr15:54580807-54580808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74015124	chr15:54580816-54580817	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187275639	chr15:54580825-54580826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56084389	chr15:54580831-54580832	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191998499	chr15:54580846-54580847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370366392	chr15:54580870-54580871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184449166	chr15:54580902-54580903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54547000-54652600	Weak transcription	Fetal Lung	lung
2	chr15:54580200-54580800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr15:54580200-54581200	Enhancers	Primary neutrophils fromperipheralblood	blood

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