Variant report

Variant	nsv519725
Chromosome Location	chr15:56485598-56496582
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	ATF1	chr15:56495751-56495990	K562	blood:	n/a	n/a
2	ATF2	chr15:56491341-56491707	GM12878	blood:	n/a	n/a
3	BATF	chr15:56491314-56491646	GM12878	blood:	n/a	chr15:56491479-56491490
4	BATF	chr15:56491354-56491563	GM12878	blood:	n/a	chr15:56491479-56491490
5	BCL11A	chr15:56491303-56491591	GM12878	blood:	n/a	chr15:56491479-56491488 chr15:56491478-56491487
6	BCL11A	chr15:56495769-56496002	GM12878	blood:	n/a	n/a
7	CTCF	chr15:56492296-56492360	Hela-S3	cervix:	n/a	chr15:56492321-56492342 chr15:56492331-56492339 chr15:56492327-56492343 chr15:56492326-56492344
8	CTCF	chr15:56492286-56492417	MCF-7	breast:	n/a	chr15:56492321-56492342 chr15:56492331-56492339 chr15:56492327-56492343 chr15:56492326-56492344
9	CTCF	chr15:56492280-56492430	MCF-7	breast:	n/a	chr15:56492321-56492342 chr15:56492331-56492339 chr15:56492327-56492343 chr15:56492326-56492344
10	CTCF	chr15:56492315-56492369	MCF-7	breast:	n/a	chr15:56492321-56492342 chr15:56492331-56492339 chr15:56492327-56492343 chr15:56492326-56492344
11	CTCF	chr15:56492280-56492430	SAEC	small airway:	n/a	chr15:56492321-56492342 chr15:56492331-56492339 chr15:56492327-56492343 chr15:56492326-56492344
12	CTCF	chr15:56492240-56492390	HCFaa	heart:	n/a	chr15:56492321-56492342 chr15:56492331-56492339 chr15:56492327-56492343 chr15:56492326-56492344
13	EBF1	chr15:56491419-56491551	GM12878	blood:	n/a	n/a
14	EGR1	chr15:56495799-56495974	K562	blood:	n/a	n/a
15	EGR1	chr15:56495799-56496028	K562	blood:	n/a	n/a
16	FOS	chr15:56487905-56488296	MCF10A-Er-Src	breast:	n/a	chr15:56488079-56488089 chr15:56488080-56488088 chr15:56488080-56488089 chr15:56488081-56488088
17	FOS	chr15:56487830-56488280	MCF10A-Er-Src	breast:	n/a	chr15:56488079-56488089 chr15:56488080-56488088 chr15:56488080-56488089 chr15:56488081-56488088
18	FOS	chr15:56495098-56495249	MCF10A-Er-Src	breast:	n/a	chr15:56495238-56495248
19	FOS	chr15:56491335-56491499	MCF10A-Er-Src	breast:	n/a	chr15:56491478-56491487 chr15:56491479-56491487 chr15:56491479-56491486 chr15:56491478-56491488
20	FOS	chr15:56491349-56491590	MCF10A-Er-Src	breast:	n/a	chr15:56491478-56491487 chr15:56491479-56491487 chr15:56491479-56491486 chr15:56491478-56491488
21	FOS	chr15:56487909-56488255	MCF10A-Er-Src	breast:	n/a	chr15:56488079-56488089 chr15:56488080-56488088 chr15:56488080-56488089 chr15:56488081-56488088
22	FOS	chr15:56487906-56488252	MCF10A-Er-Src	breast:	n/a	chr15:56488079-56488089 chr15:56488080-56488088 chr15:56488080-56488089 chr15:56488081-56488088
23	FOS	chr15:56491430-56491611	MCF10A-Er-Src	breast:	n/a	chr15:56491478-56491487 chr15:56491479-56491487 chr15:56491479-56491486 chr15:56491478-56491488
24	FOXM1	chr15:56491264-56491687	GM12878	blood:	n/a	n/a
25	GATA2	chr15:56495651-56495939	K562	blood:	n/a	n/a
26	GATA3	chr15:56492559-56492634	SH-SY5Y	brain:	n/a	n/a
27	IKZF1	chr15:56491313-56491632	GM12878	blood:	n/a	n/a
28	IRF4	chr15:56491235-56491611	GM12878	blood:	n/a	n/a
29	JUND	chr15:56495743-56496058	K562	blood:	n/a	n/a
30	KAP1	chr15:56492332-56492770	HEK293	kidney:	n/a	n/a
31	MAFF	chr15:56490105-56490110	K562	blood:	n/a	n/a
32	MAFF	chr15:56489253-56489413	K562	blood:	n/a	n/a
33	MAFK	chr15:56492464-56492620	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAFK	chr15:56489195-56489418	HepG2	liver:	n/a	n/a
35	MAFK	chr15:56485544-56485798	HepG2	liver:	n/a	chr15:56485650-56485664
36	MAFK	chr15:56495901-56495924	K562	blood:	n/a	n/a
37	MEF2A	chr15:56491349-56491743	GM12878	blood:	n/a	chr15:56491595-56491610 chr15:56491591-56491612 chr15:56491598-56491607 chr15:56491591-56491612 chr15:56491598-56491609 chr15:56491596-56491610 chr15:56491595-56491611 chr15:56491597-56491608 chr15:56491596-56491611
38	MYC	chr15:56487918-56488240	MCF10A-Er-Src	breast:	n/a	chr15:56488079-56488088 chr15:56488080-56488089
39	MYC	chr15:56489877-56489929	GM12878	blood:	n/a	n/a
40	NFIC	chr15:56491181-56491792	GM12878	blood:	n/a	n/a
41	NR2F2	chr15:56495691-56496125	K562	blood:	n/a	n/a
42	NR2F2	chr15:56495690-56496043	K562	blood:	n/a	n/a
43	POLR2A	chr15:56491467-56491507	MCF-7	breast:	n/a	n/a
44	POLR2A	chr15:56487494-56487629	ProgFib	skin:	n/a	n/a
45	POLR2A	chr15:56496297-56496351	A549	lung:	n/a	n/a
46	POLR2A	chr15:56491478-56491516	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr15:56487835-56487947	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr15:56490022-56490102	MCF-7	breast:	n/a	n/a
49	POU2F2	chr15:56495663-56496079	GM12891	blood:	n/a	n/a
50	POU2F2	chr15:56495727-56496123	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:56492206..56494642-chr15:56495488..56498069,2	MCF-7	breast:
2	chr15:56495337..56498069-chr15:56534935..56537509,2	K562	blood:
3	chr15:56467090..56469731-chr15:56488365..56490022,2	MCF-7	breast:
4	chr15:56480897..56483144-chr15:56491302..56493429,2	MCF-7	breast:
5	chr15:56484644..56486204-chr15:56489295..56491358,2	K562	blood:
6	chr15:56483194..56486063-chr15:56535825..56539303,3	MCF-7	breast:
7	chr15:56494171..56496972-chr15:56541763..56543619,2	K562	blood:
8	chr15:56485304..56488129-chr15:56488802..56490331,2	MCF-7	breast:
9	chr15:56492206..56494642-chr15:56495488..56498069,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261072	TF binding region
RFX7	TF binding region
ENSG00000261072	chromatin interactions
ENSG00000151575	chromatin interactions
ENSG00000181827	chromatin interactions

Extended variants
information (count: 393 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2682018	chr15:56485598-56485599	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544442843	chr15:56485612-56485613	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564348264	chr15:56485643-56485644	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs533399028	chr15:56485655-56485656	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546998150	chr15:56485669-56485670	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs184878655	chr15:56485696-56485697	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs528919196	chr15:56485735-56485736	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549043053	chr15:56485758-56485759	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569022512	chr15:56485791-56485792	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs150003796	chr15:56485842-56485843	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559430475	chr15:56485846-56485847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551562796	chr15:56485895-56485896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189250853	chr15:56485910-56485911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564008449	chr15:56485964-56485965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12593752	chr15:56485967-56485968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371889234	chr15:56486022-56486023	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548626127	chr15:56486042-56486043	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369113986	chr15:56486043-56486044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144270970	chr15:56486082-56486083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567882282	chr15:56486133-56486134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573168682	chr15:56486146-56486147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535525548	chr15:56486226-56486227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71476777	chr15:56486233-56486234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35214212	chr15:56486303-56486304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555429957	chr15:56486324-56486325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575291121	chr15:56486366-56486367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370661966	chr15:56486551-56486552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544301205	chr15:56486588-56486589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181657612	chr15:56486650-56486651	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2713942	chr15:56486666-56486667	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75630566	chr15:56486681-56486682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77140915	chr15:56486682-56486683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77690520	chr15:56486683-56486684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76024144	chr15:56486686-56486687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550806627	chr15:56486703-56486704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570652723	chr15:56486706-56486707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35814764	chr15:56486755-56486756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377023002	chr15:56486815-56486816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148747494	chr15:56486837-56486838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34946354	chr15:56486866-56486867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35454620	chr15:56486882-56486883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572826262	chr15:56486900-56486901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528880031	chr15:56486905-56486906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548745187	chr15:56486907-56486908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142381141	chr15:56486912-56486913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539861908	chr15:56486930-56486931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9652466	chr15:56486953-56486954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531388458	chr15:56486956-56486957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146848070	chr15:56486963-56486964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571432465	chr15:56486971-56486972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56453600-56515000	Weak transcription	NHLF	lung
2	chr15:56457400-56500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:56458400-56496200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:56459200-56511000	Weak transcription	Esophagus	oesophagus
5	chr15:56463600-56496600	Weak transcription	NHEK	skin
6	chr15:56464600-56497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:56465000-56486200	Weak transcription	Osteobl	bone
8	chr15:56465400-56496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:56465800-56496000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:56465800-56496600	Weak transcription	HMEC	breast
11	chr15:56466000-56497000	Weak transcription	HSMMtube	muscle
12	chr15:56466000-56500000	Weak transcription	Thymus	Thymus
13	chr15:56466000-56514200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:56466200-56494800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:56466400-56495400	Weak transcription	Fetal Stomach	stomach
16	chr15:56466800-56494600	Weak transcription	Fetal Intestine Large	intestine
17	chr15:56467000-56500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:56467000-56511600	Weak transcription	Fetal Intestine Small	intestine
19	chr15:56469600-56491400	Weak transcription	A549	lung
20	chr15:56470200-56498800	Weak transcription	Dnd41	blood
21	chr15:56470800-56496400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:56470800-56503800	Weak transcription	Fetal Lung	lung
23	chr15:56474200-56495000	Weak transcription	K562	blood
24	chr15:56476600-56496200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr15:56477000-56495800	Weak transcription	Primary B cells from cord blood	blood
26	chr15:56477000-56500400	Weak transcription	Liver	Liver
27	chr15:56477200-56497000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:56479800-56496200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:56480000-56495000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:56480000-56496200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:56480000-56496600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:56480000-56500000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr15:56480200-56494600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:56480200-56497000	Weak transcription	HUVEC	blood vessel
35	chr15:56480200-56515400	Weak transcription	Hela-S3	cervix
36	chr15:56480800-56489800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:56480800-56492600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:56480800-56496200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr15:56481400-56487800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:56481400-56497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:56482600-56497000	Weak transcription	NH-A	brain
42	chr15:56482600-56500200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:56482800-56489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:56483000-56491400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:56483000-56491600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr15:56483400-56495000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:56483800-56485600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:56483800-56485600	Enhancers	Right Atrium	heart
49	chr15:56483800-56487200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:56484000-56485600	Enhancers	Left Ventricle	heart

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