Variant report

Variant	nsv457143
Chromosome Location	chr15:53575652-53603688
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	chr15:53558558..53561044-chr15:53583643..53585319,2	MCF-7	breast:
2	chr15:53579873..53581442-chr15:53608994..53611608,2	MCF-7	breast:

Extended variants
information (count: 1030 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1030 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2200522	chr15:53575652-53575653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531834412	chr15:53575685-53575686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545280139	chr15:53575688-53575689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565537009	chr15:53575774-53575775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527995332	chr15:53575777-53575778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189201486	chr15:53575792-53575793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568935652	chr15:53575802-53575803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139297012	chr15:53575838-53575839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563785788	chr15:53575846-53575847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143219768	chr15:53575851-53575852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147098529	chr15:53575884-53575885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539033043	chr15:53575978-53575979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549145964	chr15:53576004-53576005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575846302	chr15:53576005-53576006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148139158	chr15:53576007-53576008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180729459	chr15:53576044-53576045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557749569	chr15:53576064-53576065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199996335	chr15:53576123-53576124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377341752	chr15:53576178-53576179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571490807	chr15:53576211-53576212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533873417	chr15:53576212-53576213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141906484	chr15:53576247-53576248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573739190	chr15:53576426-53576427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6493620	chr15:53576499-53576500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564426024	chr15:53576503-53576504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75634998	chr15:53576507-53576508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576143008	chr15:53576527-53576528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545552675	chr15:53576537-53576538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565363703	chr15:53576543-53576544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572682382	chr15:53576548-53576549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571208496	chr15:53576557-53576558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541401317	chr15:53576597-53576598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560185417	chr15:53576630-53576631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528847063	chr15:53576671-53576672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150637030	chr15:53576681-53576682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562536816	chr15:53576743-53576744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531329343	chr15:53576749-53576750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551532101	chr15:53576771-53576772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571389850	chr15:53576794-53576795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534087524	chr15:53576909-53576910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547336180	chr15:53576927-53576928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528503621	chr15:53576929-53576930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567228442	chr15:53576963-53576964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2200521	chr15:53576975-53576976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113253879	chr15:53577033-53577034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576458300	chr15:53577061-53577062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538788715	chr15:53577070-53577071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149343225	chr15:53577072-53577073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146274558	chr15:53577108-53577109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139368332	chr15:53577112-53577113	Enhancers Weak transcription	n/a	n/a	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
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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53574400-53584200	Weak transcription	Pancreas	Pancrea
2	chr15:53575400-53575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:53575800-53600000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:53576800-53578000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr15:53577400-53578200	Enhancers	Fetal Brain Male	brain
6	chr15:53580800-53581200	Enhancers	Liver	Liver
7	chr15:53584200-53584400	Enhancers	Pancreas	Pancrea
8	chr15:53587200-53587400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:53587600-53590800	Enhancers	Liver	Liver
10	chr15:53588400-53589200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:53588600-53590800	Enhancers	HepG2	liver
12	chr15:53589200-53589400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:53589400-53590400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:53590800-53597400	Weak transcription	HepG2	liver
15	chr15:53594200-53595000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr15:53594400-53595600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr15:53595800-53596000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr15:53596000-53596200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr15:53596000-53600000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:53597200-53597800	Enhancers	Liver	Liver
21	chr15:53597400-53598200	Enhancers	HepG2	liver
22	chr15:53597800-53598000	Enhancers	A549	lung
23	chr15:53598000-53598400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr15:53598000-53598400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr15:53598000-53599000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:53598200-53599800	Weak transcription	A549	lung
27	chr15:53598200-53604600	Weak transcription	HepG2	liver
28	chr15:53598400-53598600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr15:53598400-53600200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:53598400-53604800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:53599000-53600400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:53599800-53600400	Enhancers	A549	lung
33	chr15:53600000-53600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:53600000-53600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:53600000-53600800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:53600000-53601000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr15:53600000-53601200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr15:53600200-53601400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr15:53600400-53600800	Flanking Active TSS	A549	lung
40	chr15:53600400-53601000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr15:53600400-53601000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:53600400-53601200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:53600600-53601000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:53600600-53601000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:53600800-53601600	Enhancers	A549	lung
46	chr15:53601000-53604400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:53601000-53604600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:53601000-53604800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:53601400-53607000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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