Variant report

Variant	esv1262580
Chromosome Location	chr10:43325293-43325294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 54 )

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	rs398075105	chr10:43325293-43325294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs398013298	chr10:43325294-43325295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:43301800-43325800	Weak transcription	NHLF	lung
4	chr10:43303600-43325800	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
6	chr10:43308200-43328200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr10:43309800-43330000	Weak transcription	Small Intestine	intestine
8	chr10:43310400-43327400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr10:43311200-43329000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:43311400-43329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:43311600-43328200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:43312000-43328400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:43313400-43325600	Weak transcription	Hela-S3	cervix
14	chr10:43313400-43325800	Weak transcription	Fetal Brain Male	brain
15	chr10:43314400-43325400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:43314400-43325600	Weak transcription	Brain Anterior Caudate	brain
17	chr10:43314400-43325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:43314400-43332200	Weak transcription	Right Atrium	heart
19	chr10:43314600-43325800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:43314600-43329800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr10:43315200-43325400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:43317800-43328200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr10:43317800-43328200	Strong transcription	Fetal Intestine Large	intestine
24	chr10:43317800-43328200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr10:43317800-43328200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr10:43318200-43327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:43318800-43325800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr10:43318800-43327000	Weak transcription	HSMM	muscle
29	chr10:43319200-43326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:43319400-43325400	Weak transcription	HepG2	liver
31	chr10:43319400-43325400	Weak transcription	NH-A	brain
32	chr10:43319400-43325400	Weak transcription	Osteobl	bone
33	chr10:43320000-43325600	Weak transcription	HSMMtube	muscle
34	chr10:43320000-43329000	Weak transcription	Fetal Heart	heart
35	chr10:43320000-43332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr10:43320400-43326800	Strong transcription	Fetal Intestine Small	intestine
37	chr10:43320400-43328400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:43320800-43325400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:43320800-43325400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr10:43320800-43325800	Weak transcription	Fetal Kidney	kidney
41	chr10:43321000-43325400	Weak transcription	Fetal Thymus	thymus
42	chr10:43321000-43325600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:43321200-43325400	Weak transcription	A549	lung
44	chr10:43321400-43325600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:43321400-43325800	Weak transcription	Fetal Lung	lung
46	chr10:43321400-43332800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr10:43321600-43325600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:43321600-43328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:43321600-43332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:43321800-43328200	Strong transcription	Fetal Stomach	stomach

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