Variant report

Variant	esv2204083
Chromosome Location	chr15:55103671-55104081
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	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78274476	chr15:55103715-55103716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576532020	chr15:55103748-55103749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75212446	chr15:55103770-55103771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535435238	chr15:55103805-55103806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184714195	chr15:55103811-55103812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28679735	chr15:55103812-55103813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550028945	chr15:55103817-55103818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374246890	chr15:55103825-55103826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201750779	chr15:55103875-55103876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569738248	chr15:55103876-55103877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535710038	chr15:55103885-55103886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375827183	chr15:55103900-55103901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1501382	chr15:55103901-55103902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs8033218	chr15:55103902-55103903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566083947	chr15:55103926-55103927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535117129	chr15:55103927-55103928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554034545	chr15:55103950-55103951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74017621	chr15:55103958-55103959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536563907	chr15:55103970-55103971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556467153	chr15:55104000-55104001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189809955	chr15:55104016-55104017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145508081	chr15:55104018-55104019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544637469	chr15:55104024-55104025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56852137	chr15:55104034-55104035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73413743	chr15:55104056-55104057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55097200-55105800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:55100400-55106800	Weak transcription	Aorta	Aorta

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