Variant report

Variant	esv2449307
Chromosome Location	chr15:83274389-83275859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 79 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111414948	chr15:83274419-83274420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187775687	chr15:83274437-83274438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558764821	chr15:83274474-83274475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149728867	chr15:83274508-83274509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553259426	chr15:83274512-83274513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7179744	chr15:83274515-83274516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572343819	chr15:83274516-83274517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192507960	chr15:83274534-83274535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573070235	chr15:83274546-83274547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574566976	chr15:83274554-83274555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543527575	chr15:83274562-83274563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563527568	chr15:83274577-83274578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184847412	chr15:83274585-83274586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552593002	chr15:83274586-83274587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567226377	chr15:83274615-83274616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560035539	chr15:83274632-83274633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565146105	chr15:83274645-83274646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528792387	chr15:83274656-83274657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576512764	chr15:83274673-83274674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548160983	chr15:83274679-83274680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117583952	chr15:83274680-83274681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145560127	chr15:83274701-83274702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56261932	chr15:83274719-83274720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188387234	chr15:83274742-83274743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550921765	chr15:83274752-83274753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550729449	chr15:83274800-83274801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570635944	chr15:83274846-83274847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539664573	chr15:83274863-83274864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377229253	chr15:83274936-83274937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566717124	chr15:83274946-83274947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535408573	chr15:83274983-83274984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71412258	chr15:83274988-83274989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112657459	chr15:83275009-83275010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71470051	chr15:83275014-83275015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574529368	chr15:83275027-83275028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140481004	chr15:83275037-83275038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71470052	chr15:83275082-83275083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557080902	chr15:83275083-83275084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181213497	chr15:83275089-83275090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546338556	chr15:83275098-83275099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71470053	chr15:83275113-83275114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370750077	chr15:83275129-83275130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376044671	chr15:83275204-83275205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528754616	chr15:83275219-83275220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74514508	chr15:83275221-83275222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184241768	chr15:83275248-83275249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189002359	chr15:83275255-83275256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113327291	chr15:83275280-83275281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111576130	chr15:83275284-83275285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59177780	chr15:83275285-83275286	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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