Variant report

Variant	esv3377900
Chromosome Location	chr15:87516473-87518821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563456002	chr15:87516483-87516484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72757455	chr15:87516500-87516501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188682355	chr15:87516541-87516542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72757456	chr15:87516546-87516547	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528288777	chr15:87516567-87516568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370717567	chr15:87516656-87516657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72757457	chr15:87516664-87516665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571697363	chr15:87516689-87516690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569684734	chr15:87516700-87516701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56383671	chr15:87516701-87516702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113480815	chr15:87516712-87516713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550925977	chr15:87516715-87516716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569214945	chr15:87516744-87516745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536510495	chr15:87516751-87516752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191781807	chr15:87516762-87516763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566770631	chr15:87516764-87516765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113520443	chr15:87516772-87516773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534247133	chr15:87516782-87516783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184325481	chr15:87516788-87516789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549104247	chr15:87516793-87516794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147078591	chr15:87516794-87516795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544680544	chr15:87516817-87516818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556874902	chr15:87516824-87516825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2060324	chr15:87516847-87516848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542986753	chr15:87516960-87516961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55750101	chr15:87516988-87516989	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573106751	chr15:87517041-87517042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77694458	chr15:87517066-87517067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201591812	chr15:87517123-87517124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58678588	chr15:87517133-87517134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71144086	chr15:87517147-87517148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565259509	chr15:87517151-87517152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532594297	chr15:87517153-87517154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550711740	chr15:87517170-87517171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562584653	chr15:87517177-87517178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55650926	chr15:87517201-87517202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530034717	chr15:87517210-87517211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56111581	chr15:87517249-87517250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12912526	chr15:87517265-87517266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55852749	chr15:87517273-87517274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546865750	chr15:87517290-87517291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548499901	chr15:87517291-87517292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55780419	chr15:87517296-87517297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56020781	chr15:87517319-87517320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188234336	chr15:87517323-87517324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566809471	chr15:87517613-87517614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534150609	chr15:87517633-87517634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552691391	chr15:87517636-87517637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111217971	chr15:87517660-87517661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12917001	chr15:87517663-87517664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87515800-87517000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr15:87516000-87517000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr15:87516200-87516800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr15:87516200-87516800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr15:87516200-87517000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr15:87516200-87517000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr15:87516400-87517000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr15:87516400-87517000	Enhancers	Brain Substantia Nigra	brain
9	chr15:87516400-87521400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:87516600-87517000	Enhancers	H9 Cell Line	embryonic stem cell

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