Variant report

Variant	esv3377258
Chromosome Location	chr15:58281802-58282286
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	chr15:58275785..58279508-chr15:58279537..58282628,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12591551	chr15:58281803-58281804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374585339	chr15:58281815-58281816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550337516	chr15:58281819-58281820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143562626	chr15:58281840-58281841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58981530	chr15:58281868-58281869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539365992	chr15:58281874-58281875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397813327	chr15:58281891-58281892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575370557	chr15:58281926-58281927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553190074	chr15:58281944-58281945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111809946	chr15:58281953-58281954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544261318	chr15:58281957-58281958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565025227	chr15:58281993-58281994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74017096	chr15:58282011-58282012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371355925	chr15:58282051-58282052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28551566	chr15:58282092-58282093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559057824	chr15:58282114-58282115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71116543	chr15:58282122-58282123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561024181	chr15:58282149-58282150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575394215	chr15:58282160-58282161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544058588	chr15:58282161-58282162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193149438	chr15:58282166-58282167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563894512	chr15:58282173-58282174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577335705	chr15:58282177-58282178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566160871	chr15:58282185-58282186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185696241	chr15:58282245-58282246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559951352	chr15:58282269-58282270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58253800-58284800	Weak transcription	Ovary	ovary
2	chr15:58262600-58287800	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:58272600-58284000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:58276200-58284600	Weak transcription	HUVEC	blood vessel
5	chr15:58276400-58283600	Weak transcription	K562	blood
6	chr15:58281000-58283800	Weak transcription	Fetal Kidney	kidney

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