Variant report

Variant	esv3411726
Chromosome Location	chr15:55725210-55727358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55509736..55510399-chr15:55727358..55727891,2	MCF-7	breast:
2	chr15:55582032..55583811-chr15:55727186..55728164,12	MCF-7	breast:
3	chr15:55582304..55584506-chr15:55726191..55728043,2	MCF-7	breast:
4	chr15:55572408..55575581-chr15:55726220..55729674,3	K562	blood:
5	chr15:55698992..55701610-chr15:55725082..55727679,2	K562	blood:

Variant related genes	Relation type
ENSG00000260916	chromatin interactions
ENSG00000261652	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552310052	chr15:55725235-55725236	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373213633	chr15:55725267-55725268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376361665	chr15:55725292-55725293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181100216	chr15:55725294-55725295	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527614551	chr15:55725318-55725319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142601061	chr15:55725319-55725320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567167227	chr15:55725353-55725354	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs73408819	chr15:55725366-55725367	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375967455	chr15:55725367-55725368	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7177113	chr15:55725395-55725396	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs577281340	chr15:55725410-55725411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113929371	chr15:55725435-55725436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201246026	chr15:55725475-55725476	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560978250	chr15:55725514-55725515	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139601533	chr15:55725531-55725532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572770519	chr15:55725580-55725581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569145675	chr15:55725620-55725621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541792893	chr15:55725640-55725641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185596279	chr15:55725641-55725642	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574936009	chr15:55725697-55725698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543671759	chr15:55725747-55725748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189662176	chr15:55725749-55725750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532524847	chr15:55725751-55725752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs58887668	chr15:55725752-55725753	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545774526	chr15:55725763-55725764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559359736	chr15:55725771-55725772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs149742996	chr15:55725777-55725778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547241308	chr15:55725817-55725818	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs561034599	chr15:55725880-55725881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs146771071	chr15:55725906-55725907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552546234	chr15:55725943-55725944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549739785	chr15:55725988-55725989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566258029	chr15:55725992-55725993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556542349	chr15:55725993-55725994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569718413	chr15:55726040-55726041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538396568	chr15:55726042-55726043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371702768	chr15:55726044-55726045	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs377199793	chr15:55726045-55726046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369854696	chr15:55726046-55726047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374609355	chr15:55726047-55726048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538330875	chr15:55726052-55726053	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565636353	chr15:55726065-55726066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs183019044	chr15:55726076-55726077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs375524237	chr15:55726082-55726083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367579452	chr15:55726089-55726090	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558335015	chr15:55726091-55726092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369782636	chr15:55726100-55726101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534612968	chr15:55726101-55726102	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372744756	chr15:55726102-55726103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377196288	chr15:55726109-55726110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55701600-55729800	Weak transcription	Fetal Stomach	stomach
2	chr15:55711800-55737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:55712000-55730400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:55722200-55738000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:55722400-55727400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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