Variant report

Variant	nsv983990
Chromosome Location	chr15:54127137-54128614
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	chr1:181074348..181075243-chr15:54127964..54128671,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577467706	chr15:54127156-54127157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369581194	chr15:54127175-54127176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373659539	chr15:54127178-54127179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115721806	chr15:54127181-54127182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553898185	chr15:54127186-54127187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573732545	chr15:54127238-54127239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542842433	chr15:54127263-54127264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17632342	chr15:54127290-54127291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113161188	chr15:54127351-54127352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186503985	chr15:54127352-54127353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545376527	chr15:54127418-54127419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149213757	chr15:54127427-54127428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9806732	chr15:54127459-54127460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12443269	chr15:54127480-54127481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs375525304	chr15:54127510-54127511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560470525	chr15:54127558-54127559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547799323	chr15:54127669-54127670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190300270	chr15:54127738-54127739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534219101	chr15:54127744-54127745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35608986	chr15:54127778-54127779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2253351	chr15:54127779-54127780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs182131581	chr15:54127791-54127792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568610130	chr15:54127794-54127795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2253350	chr15:54127795-54127796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557291453	chr15:54127810-54127811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8040820	chr15:54127830-54127831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs8040564	chr15:54127905-54127906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs549649686	chr15:54127973-54127974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571274888	chr15:54127989-54127990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79307672	chr15:54127991-54127992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62006041	chr15:54128036-54128037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542453861	chr15:54128053-54128054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556395483	chr15:54128064-54128065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185213983	chr15:54128102-54128103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564837966	chr15:54128191-54128192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76260729	chr15:54128199-54128200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565248350	chr15:54128221-54128222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190759004	chr15:54128251-54128252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146847063	chr15:54128272-54128273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534250665	chr15:54128302-54128303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184132129	chr15:54128308-54128309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1871120	chr15:54128311-54128312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572134785	chr15:54128361-54128362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530474044	chr15:54128368-54128369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549917121	chr15:54128386-54128387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139237889	chr15:54128396-54128397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1871119	chr15:54128407-54128408	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs1478214	chr15:54128423-54128424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs188211207	chr15:54128520-54128521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532178579	chr15:54128525-54128526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21509527	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54122400-54129800	Enhancers	Fetal Intestine Small	intestine
2	chr15:54123000-54127200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:54123400-54127600	Weak transcription	Gastric	stomach
4	chr15:54123400-54130000	Enhancers	Fetal Intestine Large	intestine
5	chr15:54124000-54127600	Enhancers	Fetal Stomach	stomach
6	chr15:54124400-54127400	Enhancers	Colon Smooth Muscle	Colon
7	chr15:54124600-54127400	Enhancers	Stomach Smooth Muscle	stomach
8	chr15:54124600-54129400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:54125400-54128400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:54125600-54127400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:54125600-54128400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:54125600-54129000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:54125600-54129200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:54125600-54129600	Enhancers	Fetal Lung	lung
15	chr15:54125600-54130200	Enhancers	HepG2	liver
16	chr15:54125800-54127400	Weak transcription	Aorta	Aorta
17	chr15:54125800-54127400	Weak transcription	Stomach Mucosa	stomach
18	chr15:54125800-54129600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:54126000-54127600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:54126000-54128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:54126000-54128400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:54126000-54136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:54126200-54129000	Enhancers	A549	lung
24	chr15:54126800-54127200	Enhancers	Fetal Brain Male	brain
25	chr15:54126800-54128800	Weak transcription	Fetal Kidney	kidney
26	chr15:54127000-54127400	Enhancers	NH-A	brain
27	chr15:54127200-54127600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:54127200-54127800	Enhancers	HMEC	breast
29	chr15:54127200-54129400	Weak transcription	Fetal Brain Male	brain
30	chr15:54127400-54127800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr15:54127400-54127800	Enhancers	Stomach Mucosa	stomach
32	chr15:54127400-54128800	Weak transcription	NH-A	brain
33	chr15:54127400-54129600	Enhancers	Aorta	Aorta
34	chr15:54127600-54128200	Enhancers	Gastric	stomach
35	chr15:54127600-54129400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:54127600-54129400	Weak transcription	Fetal Stomach	stomach
37	chr15:54127600-54129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:54127800-54129000	Weak transcription	Stomach Mucosa	stomach
39	chr15:54127800-54135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:54128200-54135400	Weak transcription	Gastric	stomach
41	chr15:54128400-54129400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr15:54128400-54129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr15:54128400-54129800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:54128400-54130000	Enhancers	Rectal Mucosa Donor 31	rectum

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