Variant report

Variant	nsv1050231
Chromosome Location	chr15:58848727-58863526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58860633..58862696-chr15:58874289..58877097,2	MCF-7	breast:
2	chr15:58813787..58816646-chr15:58861427..58864530,3	K562	blood:
3	chr15:58846252..58850551-chr15:58852253..58854849,4	MCF-7	breast:
4	chr15:58836656..58842196-chr15:58843431..58849915,8	K562	blood:
5	chr15:58841313..58844294-chr15:58848370..58850226,2	K562	blood:
6	chr15:58855055..58857360-chr15:58858745..58860281,2	K562	blood:
7	chr15:58844000..58845908-chr15:58853129..58855286,2	K562	blood:
8	chr15:58852972..58855278-chr15:58856780..58858614,2	K562	blood:
9	chr15:58850686..58852786-chr15:58855873..58857553,2	K562	blood:
10	chr15:58838134..58839678-chr15:58847125..58849690,2	K562	blood:
11	chr15:58850686..58852786-chr15:58855873..58857553,2	K562	blood:
12	chr15:58843959..58845583-chr15:58846564..58848827,2	K562	blood:
13	chr15:58846252..58850551-chr15:58852253..58854849,4	MCF-7	breast:
14	chr15:58843977..58845847-chr15:58846386..58849270,2	MCF-7	breast:
15	chr15:58855055..58857360-chr15:58858745..58860281,2	K562	blood:
16	chr15:58858333..58860750-chr15:58870905..58872413,2	K562	blood:
17	chr15:58857358..58859219-chr15:58863584..58865207,2	K562	blood:
18	chr15:58860510..58864232-chr15:58873033..58877399,5	K562	blood:
19	chr15:58848705..58850783-chr15:58854087..58856299,2	MCF-7	breast:
20	chr15:58848705..58850783-chr15:58854087..58856299,2	MCF-7	breast:
21	chr15:58852972..58855278-chr15:58856780..58858614,2	K562	blood:

No data

Extended variants
information (count: 740 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140945631	chr15:58848769-58848770	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560575998	chr15:58848772-58848773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573911998	chr15:58848821-58848822	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558894083	chr15:58848826-58848827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7166817	chr15:58848828-58848829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577073285	chr15:58848873-58848874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531486487	chr15:58848900-58848901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144671771	chr15:58848990-58848991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138700694	chr15:58848991-58848992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184274922	chr15:58848998-58848999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547133456	chr15:58849008-58849009	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs6494018	chr15:58849009-58849010	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529632199	chr15:58849069-58849070	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113987544	chr15:58849072-58849073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549717181	chr15:58849104-58849105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569607932	chr15:58849142-58849143	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75649447	chr15:58849151-58849152	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558438911	chr15:58849247-58849248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189007731	chr15:58849271-58849272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534310369	chr15:58849359-58849360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553930022	chr15:58849372-58849373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373763357	chr15:58849376-58849377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35631005	chr15:58849387-58849388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541269832	chr15:58849411-58849412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556115669	chr15:58849433-58849434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192393090	chr15:58849488-58849489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544891992	chr15:58849527-58849528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565096043	chr15:58849559-58849560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371999135	chr15:58849578-58849579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386383140	chr15:58849579-58849580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7173774	chr15:58849606-58849607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559882998	chr15:58849629-58849630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541139784	chr15:58849637-58849638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560790349	chr15:58849645-58849646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529784089	chr15:58849647-58849648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35892254	chr15:58849685-58849686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568830972	chr15:58849718-58849719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142108052	chr15:58849719-58849720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184730758	chr15:58849774-58849775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552062586	chr15:58849785-58849786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571815435	chr15:58849786-58849787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534098574	chr15:58849806-58849807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554327650	chr15:58849827-58849828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567681148	chr15:58849831-58849832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536342617	chr15:58849854-58849855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189306118	chr15:58849855-58849856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141760980	chr15:58849873-58849874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28619338	chr15:58849875-58849876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs74016904	chr15:58849879-58849880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572223530	chr15:58849880-58849881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Chronic lymphocytic leukemia	21546498	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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58840600-58849200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:58840800-58849600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:58844600-58860400	Weak transcription	Primary T cells from cord blood	blood
4	chr15:58844800-58850800	Weak transcription	Liver	Liver
5	chr15:58845400-58857200	Weak transcription	Adipose Nuclei	Adipose
6	chr15:58846600-58849000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:58847000-58848800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:58847200-58860400	Weak transcription	Thymus	Thymus
9	chr15:58847400-58849000	Enhancers	K562	blood
10	chr15:58847400-58856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:58847800-58848800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:58847800-58848800	Enhancers	Ovary	ovary
13	chr15:58848000-58849200	Enhancers	A549	lung
14	chr15:58848200-58849000	Enhancers	Brain Anterior Caudate	brain
15	chr15:58848200-58851600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:58848200-58852600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:58848200-58852600	Weak transcription	Stomach Mucosa	stomach
18	chr15:58848200-58857400	Weak transcription	Colonic Mucosa	Colon
19	chr15:58848200-58858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:58848400-58848800	Flanking Active TSS	GM12878-XiMat	blood
21	chr15:58848600-58849200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr15:58848600-58852000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr15:58848600-58852000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:58848800-58849400	Weak transcription	Ovary	ovary
25	chr15:58848800-58849400	Enhancers	GM12878-XiMat	blood
26	chr15:58849000-58851600	Weak transcription	K562	blood
27	chr15:58849200-58849400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr15:58849200-58853400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:58849400-58849600	Enhancers	Ovary	ovary
30	chr15:58850000-58850200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr15:58850800-58851800	Enhancers	Liver	Liver
32	chr15:58850800-58852200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:58851600-58852800	Enhancers	K562	blood
34	chr15:58851600-58853600	Enhancers	Hela-S3	cervix
35	chr15:58851600-58854000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr15:58851800-58854400	Weak transcription	Liver	Liver
37	chr15:58852000-58852400	Enhancers	Duodenum Mucosa	Duodenum
38	chr15:58852000-58852800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:58852000-58853200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr15:58852200-58853200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:58852400-58860400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:58852600-58852800	Enhancers	Stomach Mucosa	stomach
43	chr15:58852800-58853400	Weak transcription	Stomach Mucosa	stomach
44	chr15:58853000-58856600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:58853200-58853600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:58853200-58853800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr15:58853200-58854200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr15:58853200-58854600	Enhancers	HepG2	liver
49	chr15:58853200-58865000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr15:58853400-58853600	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links