Variant report

Variant	esv2218539
Chromosome Location	chr15:62215421-62215423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:62205557..62210722-chr15:62211814..62216434,5	K562	blood:
2	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:

Variant related genes	Relation type
ENSG00000264376	chromatin interactions
ENSG00000129003	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs181454435	chr15:62215421-62215422	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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
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
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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
2	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
3	chr15:62146800-62230000	Weak transcription	Pancreas	Pancrea
4	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
5	chr15:62184600-62236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:62185000-62221000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:62185600-62262200	Weak transcription	Gastric	stomach
8	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
9	chr15:62185800-62300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:62187200-62246000	Weak transcription	A549	lung
11	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:62194600-62235400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:62194600-62266800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:62194800-62225600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:62195000-62219800	Strong transcription	Primary B cells from cord blood	blood
16	chr15:62195200-62217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:62195400-62234200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr15:62195400-62235800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:62195600-62285400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:62196400-62225200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:62197000-62225400	Weak transcription	Esophagus	oesophagus
22	chr15:62197000-62236200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:62198000-62215600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:62198800-62223600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:62202800-62215800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:62203400-62215600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr15:62205000-62216600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:62205000-62236600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:62205200-62215800	Strong transcription	Dnd41	blood
30	chr15:62205400-62215600	Strong transcription	Placenta	Placenta
31	chr15:62205400-62215800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr15:62205400-62219800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:62206600-62242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:62207200-62216800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:62207600-62220800	Weak transcription	Small Intestine	intestine
36	chr15:62207800-62226000	Weak transcription	Stomach Mucosa	stomach
37	chr15:62207800-62263200	Weak transcription	Fetal Brain Female	brain
38	chr15:62208200-62218200	Weak transcription	Fetal Intestine Small	intestine
39	chr15:62208200-62218200	Weak transcription	Fetal Stomach	stomach
40	chr15:62208200-62226000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:62208200-62263200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:62208200-62290200	Weak transcription	Aorta	Aorta
43	chr15:62208400-62253200	Weak transcription	Thymus	Thymus
44	chr15:62208600-62220800	Weak transcription	HSMMtube	muscle
45	chr15:62208600-62222400	Weak transcription	Fetal Heart	heart
46	chr15:62208600-62236800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:62208800-62215600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:62209400-62218200	Weak transcription	Left Ventricle	heart
49	chr15:62209800-62219000	Weak transcription	K562	blood
50	chr15:62209800-62219200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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