Variant report

Variant	nsv570715
Chromosome Location	chr15:99621061-99634995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr15:99630426-99631075	GM12878	blood:	n/a	n/a
2	ATF2	chr15:99630375-99631009	GM12878	blood:	n/a	n/a
3	BATF	chr15:99630514-99630912	GM12878	blood:	n/a	n/a
4	BCL11A	chr15:99630585-99630884	GM12878	blood:	n/a	chr15:99630828-99630837 chr15:99630764-99630773
5	BCL11A	chr15:99630564-99630896	GM12878	blood:	n/a	chr15:99630828-99630837 chr15:99630764-99630773
6	BCL3	chr15:99630427-99630949	GM12878	blood:	n/a	chr15:99630828-99630837 chr15:99630764-99630773
7	BCL3	chr15:99630507-99630919	GM12878	blood:	n/a	chr15:99630828-99630837 chr15:99630764-99630773
8	BCLAF1	chr15:99630433-99631053	GM12878	blood:	n/a	chr15:99630828-99630837 chr15:99630764-99630773
9	BHLHE40	chr15:99630301-99630954	GM12878	blood:	n/a	n/a
10	CBX3	chr15:99626047-99626317	K562	blood:	n/a	n/a
11	CHD2	chr15:99630162-99630932	GM12878	blood:	n/a	n/a
12	CTCF	chr15:99631244-99631312	GM20000	blood:	n/a	n/a
13	CTCF	chr15:99628344-99628401	MCF-7	breast:	n/a	n/a
14	CUX1	chr15:99630204-99631065	GM12878	blood:	n/a	n/a
15	EBF1	chr15:99630211-99630908	GM12878	blood:	n/a	chr15:99630674-99630685 chr15:99630675-99630685
16	EBF1	chr15:99630211-99631126	GM12878	blood:	n/a	chr15:99630674-99630685 chr15:99630675-99630685
17	EBF1	chr15:99628629-99628928	GM12878	blood:	n/a	chr15:99628743-99628754
18	EBF1	chr15:99630242-99630923	GM12878	blood:	n/a	chr15:99630674-99630685 chr15:99630675-99630685
19	EP300	chr15:99630577-99630966	GM12878	blood:	n/a	chr15:99630759-99630773
20	EP300	chr15:99630303-99630956	GM12878	blood:	n/a	chr15:99630759-99630773
21	EP300	chr15:99630312-99630979	GM12878	blood:	n/a	chr15:99630759-99630773
22	FOS	chr15:99633189-99633494	MCF10A-Er-Src	breast:	n/a	chr15:99633347-99633357 chr15:99633349-99633356 chr15:99633348-99633356
23	FOS	chr15:99623050-99623346	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr15:99623082-99623239	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr15:99633111-99633495	MCF10A-Er-Src	breast:	n/a	chr15:99633347-99633357 chr15:99633349-99633356 chr15:99633348-99633356
26	FOS	chr15:99623102-99623271	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr15:99633230-99633471	MCF10A-Er-Src	breast:	n/a	chr15:99633347-99633357 chr15:99633349-99633356 chr15:99633348-99633356
28	FOS	chr15:99623083-99623331	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr15:99633187-99633489	MCF10A-Er-Src	breast:	n/a	chr15:99633347-99633357 chr15:99633349-99633356 chr15:99633348-99633356
30	FOS	chr15:99630287-99630330	MCF10A-Er-Src	breast:	n/a	n/a
31	IRF1	chr15:99630797-99630813	K562	blood:	n/a	n/a
32	IRF4	chr15:99630425-99631027	GM12878	blood:	n/a	n/a
33	MAFK	chr15:99626974-99627191	IMR90	lung:	n/a	n/a
34	MAFK	chr15:99626973-99627269	HepG2	liver:	n/a	n/a
35	MAX	chr15:99630420-99630951	GM12878	blood:	n/a	n/a
36	MAX	chr15:99626117-99626329	K562	blood:	n/a	n/a
37	MAZ	chr15:99630277-99630992	GM12878	blood:	n/a	n/a
38	MTA3	chr15:99630110-99630879	GM12878	blood:	n/a	n/a
39	MXI1	chr15:99630282-99631189	GM12878	blood:	n/a	n/a
40	MYC	chr15:99630332-99630424	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr15:99628326-99628399	MCF-7	breast:	n/a	n/a
42	NFATC1	chr15:99630347-99631100	GM12878	blood:	n/a	n/a
43	NFATC1	chr15:99630469-99630972	GM12878	blood:	n/a	n/a
44	NFE2	chr15:99630386-99630506	GM12878	blood:	n/a	n/a
45	NFIC	chr15:99630457-99631128	GM12878	blood:	n/a	n/a
46	NFIC	chr15:99630253-99631035	GM12878	blood:	n/a	n/a
47	NFYB	chr15:99623719-99623901	Hela-S3	cervix:	n/a	n/a
48	PAX5	chr15:99630327-99630824	GM12878	blood:	n/a	chr15:99630764-99630773
49	PAX5	chr15:99630217-99630897	GM12878	blood:	n/a	chr15:99630764-99630773 chr15:99630828-99630837
50	PAX5	chr15:99630574-99630807	GM12878	blood:	n/a	chr15:99630764-99630773

No.	Distal block	Cell Line	Cell type
1	chr15:99318091..99320580-chr15:99620973..99623906,2	MCF-7	breast:
2	chr15:99634162..99637138-chr15:99639706..99641886,2	MCF-7	breast:
3	chr15:99398231..99399976-chr15:99621094..99623309,2	MCF-7	breast:
4	chr15:99402870..99405427-chr15:99619945..99621461,2	MCF-7	breast:
5	chr15:99410810..99413265-chr15:99619188..99621088,2	MCF-7	breast:

Variant related genes	Relation type
SYNM	TF binding region

Extended variants
information (count: 322 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4548837	chr15:99627413-99627414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372499761	chr15:99627461-99627462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557971572	chr15:99627481-99627482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62023820	chr15:99627484-99627485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193259932	chr15:99627485-99627486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537263690	chr15:99627502-99627503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562023636	chr15:99627522-99627523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150257936	chr15:99627526-99627527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544213959	chr15:99627537-99627538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138892218	chr15:99627538-99627539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532846950	chr15:99627546-99627547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184727565	chr15:99627549-99627550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114580928	chr15:99627566-99627567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527926146	chr15:99627609-99627610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376072533	chr15:99627634-99627635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189249291	chr15:99627728-99627729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537824156	chr15:99627799-99627800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556613757	chr15:99627847-99627848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192103496	chr15:99627876-99627877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539115903	chr15:99627887-99627888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371597909	chr15:99627928-99627929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111733142	chr15:99627929-99627930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28862343	chr15:99627934-99627935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533992475	chr15:99627936-99627937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184281406	chr15:99627965-99627966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573891509	chr15:99627998-99627999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369167575	chr15:99628004-99628005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12909087	chr15:99628019-99628020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12910318	chr15:99628020-99628021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544211536	chr15:99628038-99628039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12910339	chr15:99628054-99628055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12910465	chr15:99628066-99628067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201557265	chr15:99628092-99628093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199763171	chr15:99628093-99628094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140266788	chr15:99628144-99628145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555295828	chr15:99628153-99628154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544694076	chr15:99628173-99628174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142712868	chr15:99628194-99628195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527836732	chr15:99628213-99628214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549576630	chr15:99628214-99628215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561388795	chr15:99628224-99628225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12324728	chr15:99628241-99628242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550525472	chr15:99628242-99628243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571667683	chr15:99628245-99628246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534331249	chr15:99628272-99628273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144592862	chr15:99628286-99628287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181161770	chr15:99628288-99628289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148492333	chr15:99628293-99628294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56025508	chr15:99628336-99628337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573781089	chr15:99628375-99628376	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99627400-99629600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr15:99628400-99628600	Enhancers	HSMM	muscle
3	chr15:99628400-99629400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:99628600-99629600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:99628600-99629600	Enhancers	NHDF-Ad	bronchial
6	chr15:99628600-99629800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:99628600-99629800	Enhancers	Osteobl	bone
8	chr15:99628600-99630000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr15:99628800-99629600	Enhancers	NHLF	lung
10	chr15:99628800-99629800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:99628800-99629800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:99628800-99630000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:99629000-99629400	Enhancers	NH-A	brain
14	chr15:99629000-99632400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:99629200-99629400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:99629200-99629400	Enhancers	Psoas Muscle	Psoas
17	chr15:99629200-99629800	Enhancers	Fetal Muscle Leg	muscle
18	chr15:99629200-99632000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:99629400-99629800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:99629400-99631600	Weak transcription	Psoas Muscle	Psoas
21	chr15:99629600-99632600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:99629800-99630200	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:99630000-99630200	Enhancers	GM12878-XiMat	blood
24	chr15:99630200-99630800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr15:99630200-99630800	Enhancers	Fetal Muscle Leg	muscle
26	chr15:99630200-99631200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr15:99630200-99631400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr15:99630200-99631400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:99630200-99631400	Enhancers	Primary B cells from cord blood	blood
30	chr15:99630200-99631400	Flanking Active TSS	GM12878-XiMat	blood
31	chr15:99630200-99632000	Enhancers	Primary B cells from peripheral blood	blood
32	chr15:99630400-99630600	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:99630400-99630800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:99630400-99630800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr15:99630400-99631000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:99630400-99631000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr15:99630400-99631200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:99630400-99631200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr15:99630400-99631200	Enhancers	Fetal Thymus	thymus
40	chr15:99630400-99631400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr15:99630400-99631400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr15:99630400-99631400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:99630400-99631400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:99630400-99631600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:99630600-99631200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr15:99630800-99631400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr15:99630800-99634200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:99631200-99631400	Enhancers	Primary hematopoietic stem cells	blood
49	chr15:99631200-99631400	ZNF genes & repeats	Right Atrium	heart
50	chr15:99631200-99633000	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links