Variant report

Variant	esv3421888
Chromosome Location	chr15:53153529-53154060
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	chr15:53152541..53154331-chr15:53157226..53159197,2	K562	blood:
2	chr15:53152669..53155594-chr15:53157697..53160884,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369036935	chr15:53153538-53153539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545507584	chr15:53153556-53153557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560180640	chr15:53153557-53153558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572142849	chr15:53153573-53153574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542592420	chr15:53153576-53153577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145064893	chr15:53153602-53153603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28415452	chr15:53153624-53153625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191945205	chr15:53153631-53153632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565095315	chr15:53153640-53153641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371882233	chr15:53153655-53153656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530207193	chr15:53153685-53153686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138052925	chr15:53153703-53153704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368084812	chr15:53153707-53153708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565090363	chr15:53153725-53153726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565399114	chr15:53153736-53153737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1947042	chr15:53153755-53153756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547483484	chr15:53153773-53153774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369891421	chr15:53153774-53153775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565764693	chr15:53153804-53153805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536280661	chr15:53153864-53153865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs118050513	chr15:53153891-53153892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569630459	chr15:53153903-53153904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1947043	chr15:53153950-53153951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144652994	chr15:53154014-53154015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21785460	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53151200-53154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr15:53151400-53159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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