Variant report

Variant	esv1063740
Chromosome Location	chr15:59338395-59338396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398027504	chr15:59338396-59338397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
3	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
4	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
7	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:59305400-59354400	Weak transcription	Gastric	stomach
10	chr15:59306000-59353400	Weak transcription	Fetal Heart	heart
11	chr15:59308400-59358000	Weak transcription	Spleen	Spleen
12	chr15:59309200-59359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:59323600-59359000	Weak transcription	Esophagus	oesophagus
14	chr15:59323800-59343000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:59323800-59347600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:59323800-59348400	Weak transcription	Brain Anterior Caudate	brain
17	chr15:59324000-59344600	Weak transcription	HMEC	breast
18	chr15:59324000-59345200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:59324000-59347800	Weak transcription	NHLF	lung
20	chr15:59324000-59350600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:59324000-59350600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:59324000-59351000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:59325000-59354800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:59325200-59344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:59325200-59345000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:59325200-59345800	Weak transcription	NHDF-Ad	bronchial
27	chr15:59325400-59344800	Weak transcription	NH-A	brain
28	chr15:59325400-59347800	Weak transcription	HSMMtube	muscle
29	chr15:59325400-59350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:59325400-59352000	Weak transcription	Fetal Lung	lung
31	chr15:59325600-59338600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:59325800-59344800	Weak transcription	Osteobl	bone
33	chr15:59325800-59345200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:59325800-59345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:59325800-59348800	Weak transcription	Fetal Kidney	kidney
36	chr15:59325800-59350600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:59326000-59345000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:59326000-59345400	Weak transcription	Adipose Nuclei	Adipose
39	chr15:59326400-59349400	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:59326400-59365200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:59326600-59344200	Weak transcription	K562	blood
42	chr15:59327000-59345200	Weak transcription	HSMM	muscle
43	chr15:59327600-59347800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:59327800-59341000	Weak transcription	HepG2	liver
45	chr15:59327800-59344800	Weak transcription	Dnd41	blood
46	chr15:59328000-59344200	Weak transcription	Liver	Liver
47	chr15:59328400-59348000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:59328800-59344200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:59328800-59350600	Weak transcription	Brain Germinal Matrix	brain
50	chr15:59329000-59340200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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