Variant report

Variant	esv3425484
Chromosome Location	chr15:83275189-83275691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83250683..83253027-chr15:83273825..83276557,2	K562	blood:
2	chr15:83273498..83275369-chr15:83275649..83277531,2	MCF-7	breast:
3	chr15:83273498..83275369-chr15:83275649..83277531,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376044671	chr15:83275204-83275205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528754616	chr15:83275219-83275220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74514508	chr15:83275221-83275222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184241768	chr15:83275248-83275249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189002359	chr15:83275255-83275256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113327291	chr15:83275280-83275281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111576130	chr15:83275284-83275285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59177780	chr15:83275285-83275286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561650891	chr15:83275290-83275291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57535413	chr15:83275305-83275306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55732557	chr15:83275311-83275312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56180234	chr15:83275330-83275331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113411441	chr15:83275338-83275339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530545956	chr15:83275339-83275340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548275388	chr15:83275374-83275375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566729133	chr15:83275409-83275410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527841557	chr15:83275427-83275428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570564308	chr15:83275499-83275500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71412259	chr15:83275538-83275539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71412260	chr15:83275545-83275546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71412261	chr15:83275550-83275551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71412262	chr15:83275553-83275554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71412263	chr15:83275556-83275557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56078202	chr15:83275586-83275587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532892315	chr15:83275615-83275616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546748411	chr15:83275631-83275632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187328180	chr15:83275634-83275635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75446539	chr15:83275648-83275649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189451443	chr15:83275660-83275661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555272091	chr15:83275679-83275680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	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
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83241800-83297600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:83263600-83282200	Weak transcription	K562	blood

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