Variant report

Variant	esv3351294
Chromosome Location	chr15:74508000-74509977
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	CEBPB	chr15:74507456-74508116	MCF-7	breast:	n/a	chr15:74507788-74507799
2	CEBPB	chr15:74507545-74508040	ECC-1	luminal epithelium:	n/a	chr15:74507788-74507799
3	CEBPB	chr15:74507314-74508118	Hela-S3	cervix:	n/a	chr15:74507788-74507799
4	CEBPB	chr15:74507426-74508037	A549	lung:	n/a	chr15:74507788-74507799
5	CEBPB	chr15:74507561-74508026	ECC-1	luminal epithelium:	n/a	chr15:74507788-74507799
6	CEBPB	chr15:74507527-74508058	MCF-7	breast:	n/a	chr15:74507788-74507799
7	CTCF	chr15:74509820-74509970	SAEC	small airway:	n/a	n/a
8	E2F6	chr15:74507779-74508312	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr15:74507403-74508042	A549	lung:	n/a	n/a
10	EP300	chr15:74507353-74508050	A549	lung:	n/a	n/a
11	FOS	chr15:74508304-74508654	MCF10A-Er-Src	breast:	n/a	chr15:74508475-74508485 chr15:74508475-74508485 chr15:74508475-74508485 chr15:74508476-74508484 chr15:74508475-74508485
12	FOS	chr15:74508338-74508651	MCF10A-Er-Src	breast:	n/a	chr15:74508475-74508485 chr15:74508475-74508485 chr15:74508475-74508485 chr15:74508476-74508484 chr15:74508475-74508485
13	FOS	chr15:74508424-74508650	MCF10A-Er-Src	breast:	n/a	chr15:74508475-74508485 chr15:74508475-74508485 chr15:74508475-74508485 chr15:74508476-74508484 chr15:74508475-74508485
14	FOXA1	chr15:74507571-74508088	HepG2	liver:	n/a	n/a
15	FOXA1	chr15:74507526-74508016	HepG2	liver:	n/a	n/a
16	FOXA1	chr15:74507532-74508024	HepG2	liver:	n/a	n/a
17	FOXA2	chr15:74507590-74508032	HepG2	liver:	n/a	n/a
18	GATA3	chr15:74507416-74508084	MCF-7	breast:	n/a	n/a
19	HDAC2	chr15:74507466-74508103	MCF-7	breast:	n/a	chr15:74507951-74507965
20	KAP1	chr15:74507257-74508036	HEK293	kidney:	n/a	n/a
21	MAX	chr15:74507388-74508000	Hela-S3	cervix:	n/a	n/a
22	MYC	chr15:74508421-74508650	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr15:74509318-74509584	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr15:74508019-74508100	A549	lung:	n/a	n/a
25	POLR2A	chr15:74508939-74509134	GM12878	blood:	n/a	n/a
26	RAD21	chr15:74507303-74508123	Hela-S3	cervix:	n/a	n/a
27	SIN3AK20	chr15:74507210-74508201	MCF-7	breast:	n/a	n/a
28	SP1	chr15:74507220-74508057	A549	lung:	n/a	chr15:74507410-74507424 chr15:74507971-74507981
29	STAT3	chr15:74508409-74508609	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr15:74508425-74508651	MCF10A-Er-Src	breast:	n/a	n/a
31	TCF12	chr15:74507082-74508088	A549	lung:	n/a	n/a
32	TCF7L2	chr15:74507388-74508109	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74507650..74508397-chr6:26216677..26217335,2	Hela-S3	cervix:
2	chr15:74489028..74490850-chr15:74509672..74512569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259264	TF binding region
CCDC33	TF binding region
STRA6	TF binding region
ENSG00000168274	chromatin interactions
ENSG00000187990	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150831538	chr15:74508000-74508001	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs139291506	chr15:74508068-74508069	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs4887115	chr15:74508122-74508123	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs113271412	chr15:74508126-74508127	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs573390300	chr15:74508137-74508138	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs544409259	chr15:74508160-74508161	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs113838844	chr15:74508161-74508162	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs190743725	chr15:74508168-74508169	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs533704152	chr15:74508169-74508170	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs7166255	chr15:74508172-74508173	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs183449139	chr15:74508202-74508203	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs367739993	chr15:74508213-74508214	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs4887116	chr15:74508214-74508215	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs144523136	chr15:74508215-74508216	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs201329174	chr15:74508218-74508219	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs201947660	chr15:74508219-74508220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs147288281	chr15:74508227-74508228	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs187994227	chr15:74508255-74508256	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs140924523	chr15:74508271-74508272	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs4887117	chr15:74508286-74508287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191515468	chr15:74508330-74508331	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs13379566	chr15:74508341-74508342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs568922499	chr15:74508355-74508356	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs187278621	chr15:74508361-74508362	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs551414691	chr15:74508377-74508378	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs116223916	chr15:74508399-74508400	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs115422825	chr15:74508459-74508460	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs545046149	chr15:74508467-74508468	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs192626053	chr15:74508497-74508498	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	3 gene(s)	Overlapped CNVs	n/a
30	rs573402858	chr15:74508524-74508525	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs144873530	chr15:74508559-74508560	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	3 gene(s)	Overlapped CNVs	n/a
32	rs371661612	chr15:74508605-74508606	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs543831657	chr15:74508606-74508607	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	3 gene(s)	Overlapped CNVs	n/a
34	rs377412796	chr15:74508615-74508616	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs116719447	chr15:74508678-74508679	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs545565015	chr15:74508715-74508716	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs185502047	chr15:74508724-74508725	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs189630935	chr15:74508762-74508763	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs543054000	chr15:74508763-74508764	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs563752526	chr15:74508773-74508774	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs72747617	chr15:74508839-74508840	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112654498	chr15:74508879-74508880	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs60235278	chr15:74508893-74508894	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs149054566	chr15:74508957-74508958	Weak transcription Enhancers Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs180854943	chr15:74508975-74508976	Weak transcription Enhancers Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs113793920	chr15:74508981-74508982	Weak transcription Enhancers Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs550332009	chr15:74509044-74509045	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs34353000	chr15:74509126-74509127	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs565358405	chr15:74509143-74509144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533026056	chr15:74509154-74509155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	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
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74489200-74509600	Weak transcription	Gastric	stomach
2	chr15:74502200-74508800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:74504000-74508800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:74504000-74508800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr15:74504200-74508200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:74504200-74508600	Enhancers	HepG2	liver
7	chr15:74504200-74508800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:74504200-74508800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr15:74504400-74508400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:74504400-74508800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:74504400-74508800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:74504400-74508800	Enhancers	Fetal Thymus	thymus
13	chr15:74504400-74510400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:74505200-74508600	Enhancers	GM12878-XiMat	blood
15	chr15:74505600-74508200	Enhancers	Fetal Muscle Trunk	muscle
16	chr15:74505800-74508400	Enhancers	Fetal Lung	lung
17	chr15:74505800-74508600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr15:74505800-74508600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:74505800-74508600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:74505800-74508600	Enhancers	Fetal Muscle Leg	muscle
21	chr15:74506000-74508000	Enhancers	Fetal Stomach	stomach
22	chr15:74506000-74508800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr15:74506200-74508600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:74506400-74508400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr15:74506400-74508800	Enhancers	NH-A	brain
26	chr15:74506600-74520400	Weak transcription	Left Ventricle	heart
27	chr15:74506800-74508600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:74506800-74508800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:74506800-74513800	Weak transcription	Fetal Heart	heart
30	chr15:74507000-74508000	Flanking Active TSS	A549	lung
31	chr15:74507000-74508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:74507000-74508400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr15:74507000-74508400	Flanking Active TSS	Hela-S3	cervix
34	chr15:74507000-74508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:74507000-74508800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:74507000-74508800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:74507000-74508800	Enhancers	HMEC	breast
38	chr15:74507000-74514000	Weak transcription	Right Atrium	heart
39	chr15:74507200-74508000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr15:74507200-74508000	Enhancers	Fetal Kidney	kidney
41	chr15:74507600-74508200	Weak transcription	Fetal Brain Female	brain
42	chr15:74507600-74508400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr15:74507600-74508400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr15:74507600-74508400	Weak transcription	Placenta	Placenta
45	chr15:74507600-74508400	Weak transcription	Spleen	Spleen
46	chr15:74507600-74508600	Enhancers	Osteobl	bone
47	chr15:74507600-74511000	Weak transcription	Right Ventricle	heart
48	chr15:74507600-74512200	Weak transcription	Fetal Brain Male	brain
49	chr15:74507800-74508000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr15:74507800-74508200	Bivalent Enhancer	Stomach Mucosa	stomach

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