Variant report

Variant	nsv904228
Chromosome Location	chr15:54169638-54210677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:54194862..54196938-chr15:54208486..54210997,2	MCF-7	breast:
2	chr15:54198099..54200218-chr15:54201016..54202612,2	MCF-7	breast:
3	chr15:54207577..54208228-chr6:107100580..107101438,2	MCF-7	breast:
4	chr15:54194862..54196938-chr15:54208486..54210997,2	MCF-7	breast:
5	chr15:54207936..54209663-chr15:54213507..54215025,2	MCF-7	breast:
6	chr15:54164441..54166381-chr15:54167099..54170073,2	MCF-7	breast:
7	chr15:54198099..54200218-chr15:54201016..54202612,2	MCF-7	breast:

Extended variants
information (count: 996 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564604019	chr15:54172212-54172213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533487150	chr15:54172221-54172222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137976156	chr15:54172241-54172242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142727299	chr15:54172284-54172285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192739100	chr15:54172340-54172341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184254423	chr15:54172367-54172368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549461171	chr15:54172374-54172375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2248147	chr15:54172395-54172396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538086448	chr15:54172407-54172408	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569426386	chr15:54172433-54172434	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386784087	chr15:54172487-54172488	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2248142	chr15:54172488-54172489	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189205062	chr15:54172528-54172529	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552891616	chr15:54172536-54172537	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2248141	chr15:54172552-54172553	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs542103012	chr15:54172582-54172583	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562002845	chr15:54172588-54172589	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542494354	chr15:54172594-54172595	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536784363	chr15:54172596-54172597	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562016457	chr15:54172597-54172598	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544392787	chr15:54172630-54172631	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs147364941	chr15:54172666-54172667	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs541821339	chr15:54172670-54172671	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs2711639	chr15:54172685-54172686	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560538142	chr15:54172695-54172696	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs529313203	chr15:54172732-54172733	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs540985294	chr15:54172748-54172749	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs112792522	chr15:54172774-54172775	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs568859917	chr15:54174603-54174604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12912849	chr15:54174662-54174663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551677131	chr15:54174677-54174678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571421421	chr15:54174699-54174700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577388067	chr15:54174760-54174761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2711637	chr15:54174787-54174788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553648505	chr15:54174808-54174809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573786289	chr15:54174815-54174816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536346416	chr15:54174838-54174839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556281156	chr15:54174906-54174907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576014384	chr15:54174938-54174939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545028707	chr15:54174939-54174940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565303405	chr15:54174955-54174956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368507335	chr15:54174980-54174981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183052506	chr15:54175014-54175015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555649397	chr15:54175055-54175056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572610247	chr15:54175175-54175176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2616904	chr15:54175228-54175229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561320117	chr15:54175236-54175237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143478959	chr15:54175249-54175250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559673183	chr15:54175258-54175259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60263389	chr15:54175264-54175265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54172200-54172600	Enhancers	HepG2	liver
2	chr15:54172400-54172600	Active TSS	Adipose Nuclei	Adipose
3	chr15:54172400-54172800	Enhancers	Brain Hippocampus Middle	brain
4	chr15:54172600-54172800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:54172600-54172800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr15:54172600-54172800	Bivalent Enhancer	HepG2	liver
7	chr15:54174600-54177200	Enhancers	NHEK	skin
8	chr15:54174800-54175200	Enhancers	Stomach Mucosa	stomach
9	chr15:54174800-54177200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:54174800-54177400	Enhancers	HMEC	breast
11	chr15:54176400-54176800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:54176400-54176800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:54176400-54177000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:54185000-54186600	Enhancers	HepG2	liver
15	chr15:54185200-54186600	Enhancers	Stomach Mucosa	stomach
16	chr15:54185400-54185800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr15:54185400-54186200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr15:54185400-54186200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:54185400-54186400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:54185600-54186000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr15:54185600-54186200	Enhancers	Fetal Intestine Small	intestine
22	chr15:54185600-54186400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:54185600-54186600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr15:54185800-54186200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:54186000-54186400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:54186000-54186600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr15:54186600-54191200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:54191200-54191800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr15:54192600-54192800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:54198200-54198600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr15:54198600-54200000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:54200000-54202600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr15:54201400-54201600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:54201600-54202400	Enhancers	HMEC	breast
35	chr15:54201600-54202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:54201800-54202200	Enhancers	NHEK	skin
37	chr15:54201800-54203200	Enhancers	HepG2	liver
38	chr15:54201800-54203400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:54201800-54204000	Enhancers	Stomach Mucosa	stomach
40	chr15:54202000-54202600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:54202000-54202800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr15:54202000-54202800	Enhancers	A549	lung
43	chr15:54202000-54203800	Enhancers	Rectal Smooth Muscle	rectum
44	chr15:54202200-54202400	Flanking Active TSS	NHEK	skin
45	chr15:54202400-54202800	Enhancers	NHEK	skin
46	chr15:54202400-54203000	Enhancers	Fetal Stomach	stomach
47	chr15:54202400-54203200	Flanking Active TSS	HMEC	breast
48	chr15:54202600-54202800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr15:54202600-54203000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:54202600-54203400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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