Variant report

Variant	esv1322264
Chromosome Location	chr15:51340715-51340716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51333522..51338506-chr15:51338654..51346011,6	MCF-7	breast:
2	chr15:51332499..51335469-chr15:51337038..51341655,5	K562	blood:
3	chr15:51336449..51337958-chr15:51340592..51342315,2	K562	blood:
4	chr15:51333377..51335540-chr15:51340391..51342855,2	K562	blood:
5	chr15:51339931..51341975-chr15:51352347..51354430,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 58 )

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	rs79325646	chr15:51340715-51340716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs398027266	chr15:51340716-51340717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51332000-51347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:51336400-51346800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:51336600-51340800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:51336600-51344000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:51338400-51340800	Enhancers	Liver	Liver
6	chr15:51338400-51340800	Enhancers	Ovary	ovary
7	chr15:51338600-51341800	Enhancers	Fetal Stomach	stomach
8	chr15:51339000-51340800	Enhancers	Fetal Intestine Small	intestine
9	chr15:51339000-51341400	Enhancers	Fetal Lung	lung
10	chr15:51339400-51340800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:51339400-51340800	Enhancers	Left Ventricle	heart
12	chr15:51339400-51340800	Enhancers	Pancreas	Pancrea
13	chr15:51339400-51340800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr15:51339400-51341000	Enhancers	Fetal Intestine Large	intestine
15	chr15:51339400-51342000	Enhancers	Right Atrium	heart
16	chr15:51339600-51341200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:51339600-51341200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:51339600-51343800	Weak transcription	Psoas Muscle	Psoas
19	chr15:51339600-51344000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:51339600-51345000	Weak transcription	HSMM	muscle
21	chr15:51339800-51340800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:51339800-51341600	Enhancers	HepG2	liver
23	chr15:51339800-51343600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:51339800-51343600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:51339800-51343800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:51339800-51344000	Weak transcription	Brain Germinal Matrix	brain
27	chr15:51339800-51344000	Weak transcription	HSMMtube	muscle
28	chr15:51339800-51344400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:51339800-51345800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:51339800-51346800	Weak transcription	Aorta	Aorta
31	chr15:51339800-51348000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:51340000-51342000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr15:51340000-51343800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:51340000-51344400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:51340000-51347800	Weak transcription	HUVEC	blood vessel
36	chr15:51340200-51341000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:51340200-51341200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr15:51340200-51342000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr15:51340200-51343600	Weak transcription	Adipose Nuclei	Adipose
40	chr15:51340200-51343600	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:51340200-51346800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr15:51340200-51352800	Weak transcription	Brain Anterior Caudate	brain
43	chr15:51340400-51341000	Enhancers	Small Intestine	intestine
44	chr15:51340400-51341000	Enhancers	K562	blood
45	chr15:51340400-51342000	Enhancers	Primary B cells from peripheral blood	blood
46	chr15:51340400-51342400	Enhancers	GM12878-XiMat	blood
47	chr15:51340400-51343600	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:51340400-51349600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:51340600-51343600	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:51340600-51343600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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