Variant report

Variant	nsv974495
Chromosome Location	chr15:54639855-54641537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11634047	chr15:54639876-54639877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537618975	chr15:54639915-54639916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541028497	chr15:54639932-54639933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556018884	chr15:54639947-54639948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569722339	chr15:54639988-54639989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28585621	chr15:54640072-54640073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28523332	chr15:54640112-54640113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11634125	chr15:54640120-54640121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368923318	chr15:54640145-54640146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183970568	chr15:54640148-54640149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71474871	chr15:54640188-54640189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79621692	chr15:54640194-54640195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189288940	chr15:54640201-54640202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192555210	chr15:54640202-54640203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532642584	chr15:54640215-54640216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11638833	chr15:54640228-54640229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184392782	chr15:54640245-54640246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117860323	chr15:54640265-54640266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548927319	chr15:54640266-54640267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568754013	chr15:54640324-54640325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11638875	chr15:54640331-54640332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190068296	chr15:54640365-54640366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551148818	chr15:54640375-54640376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6493676	chr15:54640382-54640383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs540978785	chr15:54640388-54640389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368311454	chr15:54640402-54640403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559680196	chr15:54640403-54640404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11635260	chr15:54640457-54640458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565368265	chr15:54640473-54640474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74362526	chr15:54640586-54640587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182076725	chr15:54640594-54640595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184675263	chr15:54640628-54640629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113998563	chr15:54640645-54640646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190004223	chr15:54640646-54640647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548383391	chr15:54640656-54640657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180845037	chr15:54640678-54640679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565985920	chr15:54640704-54640705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563407036	chr15:54640722-54640723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576928272	chr15:54640774-54640775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546299886	chr15:54640794-54640795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559864170	chr15:54640800-54640801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62012035	chr15:54640812-54640813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74639023	chr15:54640826-54640827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185086359	chr15:54640842-54640843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149957352	chr15:54640849-54640850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550949100	chr15:54640873-54640874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72732780	chr15:54640902-54640903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570361675	chr15:54640994-54640995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533344332	chr15:54641028-54641029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552287115	chr15:54641081-54641082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54547000-54652600	Weak transcription	Fetal Lung	lung

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