Variant report

Variant	esv2589000
Chromosome Location	chr2:152318717-152318719
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	chr2:152316997..152319818-chr2:152338220..152340859,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 48 )

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	rs398060665	chr2:152318717-152318718	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152267800-152340400	Weak transcription	Stomach Mucosa	stomach
3	chr2:152268000-152342800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:152268200-152319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:152268200-152320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:152268200-152327800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:152268200-152328400	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr2:152268200-152328600	Strong transcription	Fetal Thymus	thymus
9	chr2:152268400-152327800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:152268600-152319200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:152268600-152326800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:152268600-152327800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:152268600-152334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:152268600-152342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:152268800-152319600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:152268800-152326800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:152268800-152327800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:152268800-152327800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:152269400-152327200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:152272400-152319200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:152272400-152327800	Strong transcription	Dnd41	blood
22	chr2:152283800-152334000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:152284200-152327000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:152284600-152327800	Strong transcription	HepG2	liver
25	chr2:152285000-152327800	Strong transcription	Placenta	Placenta
26	chr2:152285200-152327600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:152285200-152327800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:152285200-152331200	Strong transcription	Adipose Nuclei	Adipose
29	chr2:152290600-152323400	Weak transcription	Aorta	Aorta
30	chr2:152291800-152321000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:152294400-152321400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:152294600-152327800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:152294800-152327800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:152295800-152348400	Weak transcription	Right Ventricle	heart
35	chr2:152298600-152327600	Strong transcription	HUVEC	blood vessel
36	chr2:152300000-152333400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:152300200-152327800	Strong transcription	K562	blood
38	chr2:152301000-152319200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:152301600-152324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:152301800-152343800	Weak transcription	Gastric	stomach
41	chr2:152303200-152325000	Weak transcription	Small Intestine	intestine
42	chr2:152303400-152319000	Weak transcription	Fetal Brain Male	brain
43	chr2:152303400-152326400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:152304800-152319000	Weak transcription	Ovary	ovary
45	chr2:152304800-152319200	Weak transcription	Psoas Muscle	Psoas
46	chr2:152304800-152322800	Strong transcription	Osteobl	bone
47	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
48	chr2:152306200-152322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:152306400-152324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:152306800-152328400	Strong transcription	Fetal Muscle Trunk	muscle

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