Variant report

Variant	esv1687976
Chromosome Location	chr15:75225759-75225760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75198406..75199931-chr15:75225105..75227266,2	MCF-7	breast:
2	chr15:75223447..75226028-chr15:75229839..75232204,2	MCF-7	breast:
3	chr15:75199294..75201030-chr15:75224343..75226069,2	MCF-7	breast:
4	chr15:75184495..75186934-chr15:75223439..75225977,2	K562	blood:
5	chr15:75218199..75220881-chr15:75223418..75226005,3	MCF-7	breast:
6	chr15:75126487..75129177-chr15:75225564..75229328,3	K562	blood:

Variant related genes	Relation type
ENSG00000178761	chromatin interactions
ENSG00000178741	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200940266	chr15:75225759-75225760	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200608897	chr15:75225760-75225761	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Congenital diaphragmatic hernia	21085971	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
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75199600-75229400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75204000-75228400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:75204600-75229200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:75207000-75225800	Strong transcription	Hela-S3	cervix
5	chr15:75207800-75227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:75212400-75229600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:75212600-75229200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:75212800-75226000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:75213200-75227000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:75213200-75227000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:75213600-75227600	Weak transcription	Psoas Muscle	Psoas
12	chr15:75217400-75229400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:75220200-75227400	Weak transcription	Right Ventricle	heart
14	chr15:75221400-75226000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:75221400-75226000	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:75221400-75229800	Weak transcription	Spleen	Spleen
17	chr15:75221600-75225800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:75221600-75226000	Weak transcription	Primary T cells from cord blood	blood
19	chr15:75221600-75226000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:75221600-75226200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:75221600-75226200	Weak transcription	Small Intestine	intestine
22	chr15:75221600-75227200	Weak transcription	Brain Anterior Caudate	brain
23	chr15:75221600-75227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:75221600-75227400	Weak transcription	Brain Angular Gyrus	brain
25	chr15:75221600-75228000	Weak transcription	Fetal Brain Male	brain
26	chr15:75221600-75228600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:75221600-75229200	Weak transcription	Fetal Kidney	kidney
28	chr15:75221600-75229200	Weak transcription	HSMMtube	muscle
29	chr15:75221600-75229400	Weak transcription	Aorta	Aorta
30	chr15:75221600-75229400	Weak transcription	Ovary	ovary
31	chr15:75221600-75229600	Weak transcription	Gastric	stomach
32	chr15:75221800-75226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:75221800-75228600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:75221800-75228800	Weak transcription	Fetal Brain Female	brain
35	chr15:75222000-75225800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:75222000-75227000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:75222000-75228200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:75222000-75228600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:75222000-75228800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:75222000-75228800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:75222000-75229200	Weak transcription	NHDF-Ad	bronchial
42	chr15:75222200-75226000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:75222200-75227000	Weak transcription	Colonic Mucosa	Colon
44	chr15:75222200-75227400	Weak transcription	Primary B cells from cord blood	blood
45	chr15:75222200-75227600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:75222200-75228200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr15:75222200-75228800	Weak transcription	NHLF	lung
48	chr15:75222200-75229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:75222200-75229200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:75222200-75229200	Weak transcription	Brain Substantia Nigra	brain

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