Variant report

Variant	esv3451538
Chromosome Location	chr15:74508641-74509311
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	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
2	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
3	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
4	MYC	chr15:74508421-74508650	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr15:74508939-74509134	GM12878	blood:	n/a	n/a
6	STAT3	chr15:74508425-74508651	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000259264	TF binding region
CCDC33	TF binding region
STRA6	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116719447	chr15:74508678-74508679	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs545565015	chr15:74508715-74508716	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs185502047	chr15:74508724-74508725	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs189630935	chr15:74508762-74508763	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs543054000	chr15:74508763-74508764	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs563752526	chr15:74508773-74508774	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs72747617	chr15:74508839-74508840	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs112654498	chr15:74508879-74508880	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs60235278	chr15:74508893-74508894	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs149054566	chr15:74508957-74508958	Weak transcription Enhancers Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
11	rs180854943	chr15:74508975-74508976	Weak transcription Enhancers Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
12	rs113793920	chr15:74508981-74508982	Weak transcription Enhancers Bivalent Enhancer	TF binding region	3 gene(s)	Overlapped CNVs	n/a
13	rs550332009	chr15:74509044-74509045	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
14	rs34353000	chr15:74509126-74509127	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
15	rs565358405	chr15:74509143-74509144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533026056	chr15:74509154-74509155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184275424	chr15:74509199-74509200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566661502	chr15:74509225-74509226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373533783	chr15:74509260-74509261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529460616	chr15:74509284-74509285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80341097	chr15:74509287-74509288	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:50 , 50 per page) page: 1

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	chr15:74504200-74508800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:74504200-74508800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:74504400-74508800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:74504400-74508800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:74504400-74508800	Enhancers	Fetal Thymus	thymus
10	chr15:74504400-74510400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:74506000-74508800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:74506400-74508800	Enhancers	NH-A	brain
13	chr15:74506600-74520400	Weak transcription	Left Ventricle	heart
14	chr15:74506800-74508800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:74506800-74513800	Weak transcription	Fetal Heart	heart
16	chr15:74507000-74508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:74507000-74508800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:74507000-74508800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:74507000-74508800	Enhancers	HMEC	breast
20	chr15:74507000-74514000	Weak transcription	Right Atrium	heart
21	chr15:74507600-74511000	Weak transcription	Right Ventricle	heart
22	chr15:74507600-74512200	Weak transcription	Fetal Brain Male	brain
23	chr15:74507800-74512400	Weak transcription	Brain Germinal Matrix	brain
24	chr15:74508000-74509600	Enhancers	A549	lung
25	chr15:74508000-74512600	Weak transcription	Fetal Kidney	kidney
26	chr15:74508000-74512800	Weak transcription	Fetal Stomach	stomach
27	chr15:74508200-74508800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr15:74508200-74512600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:74508400-74508800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr15:74508400-74508800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr15:74508400-74508800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr15:74508400-74508800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr15:74508400-74509000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr15:74508400-74509200	Enhancers	Hela-S3	cervix
35	chr15:74508400-74512200	Weak transcription	Fetal Brain Female	brain
36	chr15:74508400-74512800	Weak transcription	Fetal Lung	lung
37	chr15:74508600-74508800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:74508600-74508800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr15:74508600-74508800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:74508600-74512600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:74508800-74510000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:74508800-74510000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:74508800-74510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:74508800-74512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:74508800-74512200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:74508800-74512400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:74508800-74512400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr15:74508800-74512800	Weak transcription	Fetal Thymus	thymus
49	chr15:74509200-74509600	Weak transcription	Hela-S3	cervix
50	chr15:74509200-74510800	Enhancers	Stomach Mucosa	stomach

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