Variant report

Variant	nsv984054
Chromosome Location	chr15:40603452-40612578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:40604253-40604273	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr15:40611540-40611690	GM12873	blood:	n/a	n/a
3	CTCF	chr15:40604216-40604297	K562	blood:	n/a	n/a
4	CTCF	chr15:40612480-40612630	NHLF	lung:	n/a	n/a
5	CTCF	chr15:40612520-40612670	AG09319	gingival:	n/a	n/a
6	CTCF	chr15:40611940-40612090	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr15:40604242-40604278	K562	blood:	n/a	n/a
8	CTCF	chr15:40612420-40612570	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr15:40612510-40613754	SK-N-SH	brain:	n/a	chr15:40612682-40612695
10	CTCF	chr15:40612340-40612490	AG09319	gingival:	n/a	n/a
11	CTCF	chr15:40605905-40605994	Spleen_OC	spleen:	n/a	n/a
12	FOS	chr15:40605822-40606424	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr15:40606265-40606413	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr15:40606945-40607554	HUVEC	blood vessel:	n/a	n/a
15	FOS	chr15:40606336-40606513	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr15:40607150-40607444	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr15:40605831-40606031	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr15:40607191-40607404	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr15:40605831-40606087	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr15:40607124-40607457	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL2	chr15:40607058-40607625	SK-N-SH	brain:	n/a	n/a
22	GATA2	chr15:40605734-40607720	HUVEC	blood vessel:	n/a	n/a
23	GATA3	chr15:40606852-40607610	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr15:40606904-40607582	SK-N-SH	brain:	n/a	n/a
25	GTF2F1	chr15:40605762-40606082	Hela-S3	cervix:	n/a	n/a
26	JUN	chr15:40607013-40607498	HUVEC	blood vessel:	n/a	n/a
27	MAFF	chr15:40609434-40609603	HepG2	liver:	n/a	chr15:40609481-40609499
28	MAFF	chr15:40609334-40609586	K562	blood:	n/a	chr15:40609481-40609499
29	MAFK	chr15:40609318-40609633	HepG2	liver:	n/a	chr15:40609482-40609497
30	MAFK	chr15:40609345-40609545	IMR90	lung:	n/a	chr15:40609482-40609497
31	MAFK	chr15:40609356-40609596	HepG2	liver:	n/a	chr15:40609482-40609497
32	MAX	chr15:40605885-40606002	K562	blood:	n/a	n/a
33	MAX	chr15:40605817-40606097	Hela-S3	cervix:	n/a	n/a
34	MAX	chr15:40605792-40606122	NB4	blood:	n/a	n/a
35	MXI1	chr15:40605842-40606138	Hela-S3	cervix:	n/a	n/a
36	MXI1	chr15:40605651-40606764	SK-N-SH	brain:	n/a	n/a
37	MYC	chr15:40605829-40606119	NB4	blood:	n/a	n/a
38	MYC	chr15:40605777-40606127	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr15:40607183-40607476	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr15:40607139-40607425	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr15:40605764-40606127	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr15:40607102-40607371	HUVEC	blood vessel:	n/a	n/a
43	NFIC	chr15:40606958-40607646	SK-N-SH	brain:	n/a	n/a
44	NFIC	chr15:40605637-40606239	ECC-1	luminal epithelium:	n/a	n/a
45	NFIC	chr15:40605550-40606247	ECC-1	luminal epithelium:	n/a	n/a
46	NFIC	chr15:40605595-40606141	SK-N-SH	brain:	n/a	n/a
47	NR3C1	chr15:40606209-40606611	A549	lung:	n/a	n/a
48	NR3C1	chr15:40606260-40606658	A549	lung:	n/a	n/a
49	PBX3	chr15:40606992-40607505	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr15:40607745-40607945	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
2	chr15:40604227..40604812-chr15:40659800..40660618,2	MCF-7	breast:
3	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
4	chr15:40601564..40604029-chr15:40608282..40611704,3	K562	blood:
5	chr15:40597155..40599934-chr15:40605080..40607975,2	K562	blood:
6	chr15:40604102..40606720-chr15:40607804..40609983,2	K562	blood:
7	chr15:40612389..40614304-chr15:40626844..40628895,2	K562	blood:
8	chr15:40604102..40606579-chr15:40607804..40610133,2	K562	blood:
9	chr15:40609528..40613420-chr15:40614090..40617606,5	K562	blood:
10	chr15:40602041..40603902-chr15:40615864..40618409,2	K562	blood:
11	chr15:40567044..40569798-chr15:40602403..40604424,2	K562	blood:
12	chr15:40607352..40610567-chr15:40611377..40615529,4	MCF-7	breast:
13	chr15:40601618..40604143-chr15:40604739..40606593,2	MCF-7	breast:
14	chr15:40589397..40592046-chr15:40601245..40604242,2	K562	blood:
15	chr15:40611920..40613859-chr15:40613927..40615590,2	K562	blood:
16	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
17	chr15:40601564..40604029-chr15:40608282..40611704,3	K562	blood:
18	chr15:40596629..40600129-chr15:40604012..40607975,4	K562	blood:
19	chr15:40608873..40611853-chr15:40613878..40616202,2	MCF-7	breast:
20	chr15:40329590..40332375-chr15:40611438..40613326,2	K562	blood:
21	chr15:40603175..40604974-chr15:40662055..40664478,2	K562	blood:
22	chr15:40607352..40610567-chr15:40611377..40615529,4	MCF-7	breast:
23	chr15:40601542..40603378-chr15:40607620..40610047,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf52-1	chr15:40609595-40609694	XLOC_011441

No data

Variant related genes	Relation type
PLCB2	TF binding region
ENSG00000259198	TF binding region
ENSG00000244705	TF binding region
LINC00984	TF binding region
ENSG00000140319	chromatin interactions
ENSG00000248508	chromatin interactions
ENSG00000259198	chromatin interactions
ENSG00000259714	chromatin interactions
ENSG00000137841	chromatin interactions
ENSG00000140323	chromatin interactions
ENSG00000244705	chromatin interactions
ENSG00000259330	chromatin interactions
IGF1R	miRNA target sites

Extended variants
information (count: 352 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:352 , 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	rs373416596	chr15:40603455-40603456	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs553158478	chr15:40603473-40603474	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs560043111	chr15:40603485-40603486	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs34541227	chr15:40603507-40603508	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186742998	chr15:40603534-40603535	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs558949524	chr15:40603546-40603547	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs375062967	chr15:40603569-40603570	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs575557708	chr15:40603590-40603591	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs544454955	chr15:40603592-40603593	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs561266494	chr15:40603599-40603600	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs4923862	chr15:40603641-40603642	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs112008070	chr15:40603685-40603686	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs62017969	chr15:40603686-40603687	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs528240341	chr15:40603692-40603693	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs55965021	chr15:40603698-40603699	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs564860176	chr15:40603715-40603716	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs530524632	chr15:40603725-40603726	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs531235662	chr15:40603730-40603731	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs113003846	chr15:40603739-40603740	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs536436018	chr15:40603740-40603741	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs546819930	chr15:40603776-40603777	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs549607753	chr15:40603785-40603786	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs192457819	chr15:40603786-40603787	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs148275487	chr15:40603876-40603877	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs140367593	chr15:40603926-40603927	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs575204966	chr15:40603931-40603932	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs537862801	chr15:40603991-40603992	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs11070263	chr15:40604048-40604049	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs574818775	chr15:40604051-40604052	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs150199122	chr15:40604072-40604073	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs76947325	chr15:40604083-40604084	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs138802069	chr15:40604095-40604096	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs554350102	chr15:40604098-40604099	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs545044168	chr15:40604120-40604121	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs146330799	chr15:40604126-40604127	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs371176174	chr15:40604147-40604148	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs138452948	chr15:40604150-40604151	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs181741155	chr15:40604170-40604171	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs561162839	chr15:40604209-40604210	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs185084532	chr15:40604218-40604219	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs546585580	chr15:40604239-40604240	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs536762936	chr15:40604264-40604265	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs116934443	chr15:40604281-40604282	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs576593907	chr15:40604297-40604298	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs532226458	chr15:40604331-40604332	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs75534217	chr15:40604342-40604343	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs571546302	chr15:40604371-40604372	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs149616328	chr15:40604397-40604398	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs554592900	chr15:40604404-40604405	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs189597538	chr15:40604428-40604429	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40584200-40614800	Weak transcription	Gastric	stomach
2	chr15:40599400-40605600	Weak transcription	Right Atrium	heart
3	chr15:40600000-40605600	Weak transcription	HSMM	muscle
4	chr15:40600000-40614600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:40601200-40604600	Weak transcription	Pancreas	Pancrea
6	chr15:40601200-40605800	Weak transcription	HUVEC	blood vessel
7	chr15:40601200-40612800	Weak transcription	Right Ventricle	heart
8	chr15:40601400-40605600	Weak transcription	Lung	lung
9	chr15:40601400-40606400	Weak transcription	Esophagus	oesophagus
10	chr15:40601800-40605600	Weak transcription	Colonic Mucosa	Colon
11	chr15:40601800-40605600	Weak transcription	Thymus	Thymus
12	chr15:40602000-40612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:40602000-40613000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:40602000-40614600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr15:40602200-40605600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:40602200-40612600	Weak transcription	Spleen	Spleen
17	chr15:40602400-40605200	Weak transcription	Fetal Heart	heart
18	chr15:40602400-40605600	Weak transcription	Primary T cells from cord blood	blood
19	chr15:40602400-40605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:40602400-40605600	Weak transcription	K562	blood
21	chr15:40602400-40605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:40602400-40605800	Weak transcription	Fetal Brain Male	brain
23	chr15:40602600-40605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:40602600-40605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:40602600-40605400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:40602600-40605400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:40602600-40605800	Weak transcription	Hela-S3	cervix
28	chr15:40602600-40606000	Weak transcription	Primary B cells from cord blood	blood
29	chr15:40602600-40606000	Weak transcription	Fetal Thymus	thymus
30	chr15:40602600-40614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:40602800-40604600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:40602800-40605200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:40602800-40605400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr15:40602800-40605600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr15:40602800-40605600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr15:40602800-40605800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:40602800-40606000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:40603000-40604600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr15:40603000-40605000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr15:40603000-40605600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:40603400-40603600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:40603400-40603600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:40604600-40604800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:40604600-40605000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr15:40604600-40607400	Enhancers	Pancreas	Pancrea
46	chr15:40604600-40607800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:40604600-40608000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr15:40604800-40605000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:40605000-40607800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr15:40605200-40606000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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