Variant report

Variant	esv1438438
Chromosome Location	chr15:34576478-34576479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 68 )

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	rs71415558	chr15:34576478-34576479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71119953	chr15:34576479-34576480	Weak transcription Strong transcription	n/a	n/a	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
2	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:34551200-34577000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:34551400-34577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:34555200-34584200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:34555200-34584600	Weak transcription	Esophagus	oesophagus
9	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
10	chr15:34562400-34584000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:34564000-34577000	Weak transcription	Fetal Heart	heart
12	chr15:34565000-34584600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:34565200-34584600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:34565600-34583200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:34566200-34584600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr15:34566400-34583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:34566800-34584600	Weak transcription	Liver	Liver
18	chr15:34567600-34577200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:34568000-34584600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr15:34568200-34584600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:34569600-34577200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:34569800-34577000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:34570000-34584000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:34570200-34577000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:34572600-34577400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:34572600-34583000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:34575600-34577600	Strong transcription	Primary T cells from cord blood	blood
28	chr15:34576000-34584400	Weak transcription	Primary B cells from cord blood	blood
29	chr15:34576200-34584800	Weak transcription	GM12878-XiMat	blood

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