Variant report

Variant	nsv1044347
Chromosome Location	chr15:42023805-42049360
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	BACH1	chr15:42025720-42025784	K562	blood:	n/a	n/a
2	CEBPB	chr15:42039188-42039290	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr15:42039047-42039408	IMR90	lung:	n/a	n/a
4	CEBPB	chr15:42041780-42042039	K562	blood:	n/a	n/a
5	CEBPB	chr15:42041787-42042091	IMR90	lung:	n/a	n/a
6	CEBPB	chr15:42039062-42039376	A549	lung:	n/a	n/a
7	CEBPB	chr15:42041788-42041975	A549	lung:	n/a	n/a
8	CEBPB	chr15:42039058-42039391	HepG2	liver:	n/a	n/a
9	CEBPB	chr15:42039027-42039417	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr15:42039095-42039357	K562	blood:	n/a	n/a
11	CTCF	chr15:42039789-42039816	GM10248	blood:	n/a	n/a
12	CTCF	chr15:42045458-42045531	Lung_OC	lung:	n/a	n/a
13	E2F4	chr15:42041453-42041538	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr15:42046742-42046845	MCF10A-Er-Src	breast:	n/a	n/a
15	FAM48A	chr15:42028609-42028704	GM12878	blood:	n/a	n/a
16	FOS	chr15:42039028-42039336	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr15:42039046-42039337	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr15:42039008-42039348	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr15:42039027-42039336	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL2	chr15:42026261-42026774	SK-N-SH	brain:	n/a	chr15:42026501-42026511 chr15:42026497-42026507 chr15:42026501-42026511 chr15:42026497-42026507 chr15:42026498-42026506 chr15:42026498-42026505 chr15:42026498-42026506 chr15:42026497-42026507 chr15:42026696-42026708 chr15:42026497-42026507 chr15:42026491-42026503
21	GATA2	chr15:42038961-42039322	HUVEC	blood vessel:	n/a	chr15:42039159-42039170 chr15:42039149-42039163
22	GATA3	chr15:42038746-42039473	SK-N-SH	brain:	n/a	chr15:42039159-42039170
23	GATA3	chr15:42039025-42039488	MCF-7	breast:	n/a	chr15:42039159-42039170
24	GATA3	chr15:42038776-42039481	SK-N-SH	brain:	n/a	chr15:42039159-42039170
25	GATA3	chr15:42044987-42045402	MCF-7	breast:	n/a	n/a
26	JUND	chr15:42026224-42026764	SK-N-SH	brain:	n/a	chr15:42026501-42026511 chr15:42026497-42026507 chr15:42026501-42026511 chr15:42026497-42026507 chr15:42026498-42026506 chr15:42026498-42026505 chr15:42026498-42026506 chr15:42026497-42026507 chr15:42026696-42026708 chr15:42026497-42026507 chr15:42026491-42026503
27	MAFF	chr15:42024704-42025047	K562	blood:	n/a	n/a
28	MAFF	chr15:42024691-42025076	HepG2	liver:	n/a	n/a
29	MAFF	chr15:42031685-42031688	K562	blood:	n/a	n/a
30	MAFK	chr15:42031678-42031914	IMR90	lung:	n/a	chr15:42031735-42031750 chr15:42031735-42031751 chr15:42031735-42031746
31	MAFK	chr15:42024708-42025065	K562	blood:	n/a	n/a
32	MAFK	chr15:42024642-42025072	IMR90	lung:	n/a	n/a
33	MAFK	chr15:42031599-42031928	HepG2	liver:	n/a	chr15:42031735-42031750 chr15:42031735-42031751 chr15:42031735-42031746
34	MAFK	chr15:42024690-42025073	Hela-S3	cervix:	n/a	n/a
35	MAFK	chr15:42024704-42025066	HepG2	liver:	n/a	n/a
36	MAFK	chr15:42024714-42025063	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFK	chr15:42024693-42025065	HepG2	liver:	n/a	n/a
38	MAFK	chr15:42031692-42031898	HepG2	liver:	n/a	chr15:42031735-42031750 chr15:42031735-42031751 chr15:42031735-42031746
39	MAFK	chr15:42024644-42025166	GM12878	blood:	n/a	n/a
40	NFYA	chr15:42048829-42049021	Hela-S3	cervix:	n/a	n/a
41	NR2F2	chr15:42044877-42045426	MCF-7	breast:	n/a	chr15:42045141-42045156
42	POLR2A	chr15:42045876-42045985	K562	blood:	n/a	n/a
43	POLR2A	chr15:42042386-42042567	GM12878	blood:	n/a	n/a
44	POLR2A	chr15:42035796-42035869	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr15:42031095-42031207	K562	blood:	n/a	n/a
46	POLR2A	chr15:42047392-42047396	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:42025663-42025774	K562	blood:	n/a	n/a
48	POLR2A	chr15:42047577-42047604	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr15:42027126-42027490	K562	blood:	n/a	n/a
50	POLR2A	chr15:42027650-42027797	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42028222..42030756-chr15:42044005..42046072,2	K562	blood:
2	chr15:42043169..42045092-chr15:42049532..42051518,2	MCF-7	breast:
3	chr15:42030668..42033706-chr15:42033784..42035660,3	MCF-7	breast:
4	chr15:42030668..42033706-chr15:42033784..42035660,3	MCF-7	breast:
5	chr15:42024047..42026644-chr15:42028448..42031222,2	K562	blood:
6	chr15:42039177..42040902-chr15:42043568..42045872,2	MCF-7	breast:
7	chr15:42024047..42026644-chr15:42028448..42031222,2	K562	blood:
8	chr15:42040960..42042477-chr15:42049684..42052512,2	MCF-7	breast:
9	chr15:42028588..42031786-chr15:42034789..42036907,3	K562	blood:
10	chr15:42019750..42022278-chr15:42036338..42038977,2	K562	blood:
11	chr15:42039177..42040902-chr15:42043568..42045872,2	MCF-7	breast:
12	chr15:42034159..42036679-chr15:42048298..42050430,2	K562	blood:
13	chr15:42028222..42030756-chr15:42044005..42046072,2	K562	blood:
14	chr15:42034159..42036679-chr15:42048298..42050430,2	K562	blood:
15	chr15:42035386..42037537-chr15:42041123..42043627,2	MCF-7	breast:
16	chr15:42035386..42037537-chr15:42041123..42043627,2	MCF-7	breast:
17	chr15:42041841..42044077-chr15:42045967..42047583,2	K562	blood:
18	chr15:42049130..42051110-chr15:42082054..42084370,2	MCF-7	breast:
19	chr15:42028588..42031786-chr15:42034789..42036907,3	K562	blood:
20	chr15:42041841..42044077-chr15:42045967..42047583,2	K562	blood:

Variant related genes	Relation type
MGA	TF binding region
ENSG00000174197	chromatin interactions

Extended variants
information (count: 950 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188252102	chr15:42023908-42023909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116638012	chr15:42023929-42023930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551355589	chr15:42023950-42023951	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573625800	chr15:42023965-42023966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76821220	chr15:42023995-42023996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558919470	chr15:42024016-42024017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148075319	chr15:42024017-42024018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566746055	chr15:42024092-42024093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192989342	chr15:42024114-42024115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544402152	chr15:42024144-42024145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79794386	chr15:42024161-42024162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183723185	chr15:42024171-42024172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540274057	chr15:42024187-42024188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533873195	chr15:42024317-42024318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78427058	chr15:42024363-42024364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62002072	chr15:42024365-42024366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559222550	chr15:42024378-42024379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188196080	chr15:42024408-42024409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553401647	chr15:42024423-42024424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568507639	chr15:42024433-42024434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569576589	chr15:42024438-42024439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2577958	chr15:42024462-42024463	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs564953643	chr15:42024470-42024471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530577499	chr15:42024488-42024489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2695166	chr15:42024579-42024580	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs567408388	chr15:42024582-42024583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377676776	chr15:42024597-42024598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568087590	chr15:42024613-42024614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546646052	chr15:42024616-42024617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs59421421	chr15:42024617-42024618	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539356977	chr15:42024625-42024626	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559080195	chr15:42024632-42024633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575714940	chr15:42024634-42024635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538297131	chr15:42024645-42024646	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs533444804	chr15:42024651-42024652	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs376325333	chr15:42024658-42024659	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs193273233	chr15:42024662-42024663	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs574641978	chr15:42024689-42024690	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540214674	chr15:42024728-42024729	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs560150730	chr15:42024794-42024795	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs146373899	chr15:42024823-42024824	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544974925	chr15:42024881-42024882	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565048522	chr15:42024907-42024908	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs558095742	chr15:42024909-42024910	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs530607419	chr15:42024939-42024940	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550798434	chr15:42024969-42024970	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs75993531	chr15:42024977-42024978	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs139371211	chr15:42025087-42025088	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs149475121	chr15:42025110-42025111	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs13329445	chr15:42025166-42025167	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	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
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41972400-42065200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41984200-42034800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41989000-42041600	Weak transcription	Fetal Brain Male	brain
4	chr15:41996200-42034800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:42002200-42028400	Weak transcription	Pancreas	Pancrea
6	chr15:42003600-42026800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:42003600-42027000	Weak transcription	Brain Germinal Matrix	brain
8	chr15:42003600-42028400	Weak transcription	Aorta	Aorta
9	chr15:42003800-42027200	Weak transcription	Spleen	Spleen
10	chr15:42003800-42028400	Weak transcription	Gastric	stomach
11	chr15:42003800-42028400	Weak transcription	Small Intestine	intestine
12	chr15:42003800-42056000	Weak transcription	Colonic Mucosa	Colon
13	chr15:42004000-42026800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:42004000-42027000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:42004600-42026600	Weak transcription	Right Ventricle	heart
16	chr15:42005400-42027000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:42005400-42028400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:42005600-42027200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:42005600-42027400	Weak transcription	NHDF-Ad	bronchial
20	chr15:42005800-42027000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:42005800-42028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:42006000-42026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:42006000-42028400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:42006200-42024000	Weak transcription	Fetal Brain Female	brain
25	chr15:42006200-42025000	Weak transcription	HepG2	liver
26	chr15:42006200-42026600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:42006200-42027200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:42006200-42027200	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:42006200-42034800	Weak transcription	A549	lung
30	chr15:42006400-42025600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:42006400-42026600	Weak transcription	HMEC	breast
32	chr15:42006400-42041400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:42006600-42025600	Weak transcription	Dnd41	blood
34	chr15:42006600-42027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:42006800-42025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:42006800-42026000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:42006800-42026400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:42006800-42027400	Weak transcription	NHEK	skin
39	chr15:42008400-42024600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:42009800-42056800	Weak transcription	Fetal Heart	heart
41	chr15:42011200-42026400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:42011400-42025400	Weak transcription	Brain Substantia Nigra	brain
43	chr15:42016000-42028400	Weak transcription	Psoas Muscle	Psoas
44	chr15:42017400-42062600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr15:42019000-42037000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:42019200-42037200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:42019400-42024200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr15:42019400-42032800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:42019400-42036800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:42019400-42037000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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