Variant report

Variant	esv3331535
Chromosome Location	chr15:54420560-54423958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139943337	chr15:54423400-54423401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529778818	chr15:54423422-54423423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142161289	chr15:54423423-54423424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569696924	chr15:54423467-54423468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182697544	chr15:54423494-54423495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376418774	chr15:54423515-54423516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4774679	chr15:54423532-54423533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs4776210	chr15:54423552-54423553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150754313	chr15:54423553-54423554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542333523	chr15:54423561-54423562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4774680	chr15:54423564-54423565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574279715	chr15:54423568-54423569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139081451	chr15:54423575-54423576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575835045	chr15:54423586-54423587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546064166	chr15:54423592-54423593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576867776	chr15:54423610-54423611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545839322	chr15:54423617-54423618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4774681	chr15:54423703-54423704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs77828030	chr15:54423741-54423742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186046148	chr15:54423757-54423758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190812142	chr15:54423800-54423801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78173596	chr15:54423805-54423806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549947109	chr15:54423820-54423821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183866400	chr15:54423830-54423831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7170578	chr15:54423831-54423832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7170148	chr15:54423863-54423864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs551838670	chr15:54423890-54423891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565982443	chr15:54423904-54423905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534647819	chr15:54423919-54423920	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54423400-54423800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:54423800-54424200	Enhancers	NH-A	brain

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