Variant report

Variant	esv3356461
Chromosome Location	chr15:77091866-77092490
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	chr15:77092170-77092438	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr15:77092175-77092446	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr15:77092170-77092370	K562	blood:	n/a	n/a
4	CEBPB	chr15:77092148-77092465	A549	lung:	n/a	n/a
5	CEBPB	chr15:77092102-77092498	IMR90	lung:	n/a	n/a
6	CEBPB	chr15:77092177-77092463	A549	lung:	n/a	n/a
7	CEBPB	chr15:77092195-77092457	MCF-7	breast:	n/a	n/a
8	CTCF	chr15:77092200-77092350	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr15:77092220-77092370	AG10803	skin:	n/a	n/a
10	CTCF	chr15:77092260-77092410	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr15:77092220-77092370	HMEC	breast:	n/a	n/a
12	CUX1	chr15:77092262-77092459	K562	blood:	n/a	n/a
13	E2F4	chr15:77092157-77092463	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr15:77092251-77092388	K562	blood:	n/a	n/a
15	FOS	chr15:77092135-77092499	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr15:77092135-77092508	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr15:77092136-77092505	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr15:77092113-77092496	MCF10A-Er-Src	breast:	n/a	n/a
19	FOSL2	chr15:77092143-77092410	A549	lung:	n/a	n/a
20	FOSL2	chr15:77092166-77092538	MCF-7	breast:	n/a	n/a
21	FOSL2	chr15:77092066-77092532	A549	lung:	n/a	n/a
22	JUN	chr15:77091994-77092689	K562	blood:	n/a	n/a
23	JUND	chr15:77092140-77092488	K562	blood:	n/a	chr15:77092313-77092324
24	JUND	chr15:77092160-77092453	HepG2	liver:	n/a	chr15:77092313-77092324
25	MAFF	chr15:77092209-77092409	K562	blood:	n/a	n/a
26	MAFF	chr15:77092229-77092429	HepG2	liver:	n/a	n/a
27	MAFK	chr15:77092170-77092441	HepG2	liver:	n/a	chr15:77092302-77092317
28	MAFK	chr15:77092140-77092420	K562	blood:	n/a	chr15:77092302-77092317
29	MAFK	chr15:77092130-77092498	IMR90	lung:	n/a	chr15:77092302-77092317
30	MAFK	chr15:77092284-77092439	H1-hESC	embryonic stem cell:	n/a	chr15:77092302-77092317
31	MAFK	chr15:77092243-77092386	HepG2	liver:	n/a	chr15:77092302-77092317
32	MYC	chr15:77092216-77092425	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr15:77092048-77092299	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SCAPER	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563035962	chr15:77091901-77091902	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371522477	chr15:77091904-77091905	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574175951	chr15:77092027-77092028	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs544433291	chr15:77092034-77092035	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556727587	chr15:77092035-77092036	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531730439	chr15:77092038-77092039	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150002146	chr15:77092099-77092100	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs8027067	chr15:77092110-77092111	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146611184	chr15:77092111-77092112	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs199951331	chr15:77092156-77092157	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527320784	chr15:77092175-77092176	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs534226973	chr15:77092177-77092178	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs117509483	chr15:77092242-77092243	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs560976783	chr15:77092268-77092269	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531641357	chr15:77092311-77092312	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549672146	chr15:77092362-77092363	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs16968490	chr15:77092378-77092379	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533230867	chr15:77092410-77092411	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs3825892	chr15:77092417-77092418	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115713049	chr15:77092433-77092434	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372516627	chr15:77092436-77092437	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs116166532	chr15:77092438-77092439	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555736908	chr15:77092447-77092448	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141325444	chr15:77092448-77092449	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs538546098	chr15:77092461-77092462	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs151177404	chr15:77092482-77092483	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143353287	chr15:77092483-77092484	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141833815	chr15:77092485-77092486	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Intellectual disability	22102821	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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77057000-77092000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:77057000-77097200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:77057200-77098400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:77057800-77098200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:77058000-77100200	Weak transcription	Fetal Brain Male	brain
6	chr15:77058000-77106000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:77070000-77093600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:77070000-77097200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:77073000-77093800	Weak transcription	Gastric	stomach
10	chr15:77073000-77101000	Weak transcription	Lung	lung
11	chr15:77073000-77101400	Weak transcription	Right Ventricle	heart
12	chr15:77073000-77109200	Weak transcription	Spleen	Spleen
13	chr15:77073000-77125000	Weak transcription	Pancreas	Pancrea
14	chr15:77075800-77092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:77076600-77098000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:77078200-77103000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:77079600-77097800	Weak transcription	HSMMtube	muscle
18	chr15:77080400-77092000	Weak transcription	HMEC	breast
19	chr15:77082600-77096400	Weak transcription	Colonic Mucosa	Colon
20	chr15:77083600-77097600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:77083800-77092000	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:77083800-77095000	Weak transcription	Brain Anterior Caudate	brain
23	chr15:77083800-77095600	Weak transcription	Fetal Lung	lung
24	chr15:77083800-77097800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:77083800-77098000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:77084000-77100400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:77084000-77100600	Weak transcription	GM12878-XiMat	blood
28	chr15:77084000-77100800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:77084400-77098000	Weak transcription	Small Intestine	intestine
30	chr15:77084800-77092600	Weak transcription	HepG2	liver
31	chr15:77084800-77098200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:77085200-77097200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:77085200-77098400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:77085400-77092000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr15:77085400-77096600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:77085400-77125000	Weak transcription	HSMM	muscle
37	chr15:77085600-77094200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:77085800-77104400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:77086200-77097600	Weak transcription	Hela-S3	cervix
40	chr15:77086200-77097800	Weak transcription	Colon Smooth Muscle	Colon
41	chr15:77086400-77092000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:77086400-77092000	Weak transcription	Fetal Brain Female	brain
43	chr15:77086400-77097800	Weak transcription	Brain Germinal Matrix	brain
44	chr15:77086400-77098400	Weak transcription	Brain Substantia Nigra	brain
45	chr15:77086400-77100600	Weak transcription	Aorta	Aorta
46	chr15:77086400-77101600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:77086400-77111000	Weak transcription	Thymus	Thymus
48	chr15:77086600-77092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:77086600-77094600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:77086600-77094800	Weak transcription	Brain Angular Gyrus	brain

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