Variant report

Variant	esv2063499
Chromosome Location	chr9:140674976-140674978
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	chr9:140672962..140675618-chr9:140678748..140680768,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 20 )

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	rs531846915	chr9:140674976-140674977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140649800-140712400	Weak transcription	Psoas Muscle	Psoas
2	chr9:140650000-140679200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:140650200-140678800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:140650200-140682600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr9:140650200-140700000	Strong transcription	Primary T cells from cord blood	blood
6	chr9:140652200-140676600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:140657400-140677800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:140659000-140683600	Strong transcription	Liver	Liver
9	chr9:140663800-140680400	Strong transcription	Adipose Nuclei	Adipose
10	chr9:140663800-140682000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr9:140663800-140683000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:140664000-140683000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr9:140664200-140681000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:140664200-140682600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:140664200-140698600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:140664200-140701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:140664600-140679000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:140664600-140708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:140664800-140678600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:140664800-140700000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:140665000-140681600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr9:140665000-140700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:140665200-140679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:140665200-140702000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:140665400-140675000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr9:140665400-140679400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:140665400-140682800	Strong transcription	Fetal Intestine Small	intestine
28	chr9:140665400-140697800	Strong transcription	Thymus	Thymus
29	chr9:140665400-140700800	Strong transcription	Fetal Stomach	stomach
30	chr9:140665600-140679800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:140666000-140675000	Weak transcription	Fetal Kidney	kidney
32	chr9:140666200-140682200	Strong transcription	Lung	lung
33	chr9:140666600-140682000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr9:140667000-140679600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:140667200-140679800	Strong transcription	Gastric	stomach
36	chr9:140667200-140698000	Strong transcription	Dnd41	blood
37	chr9:140667200-140699000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr9:140667400-140679000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr9:140667600-140679200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:140667800-140677800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr9:140667800-140679600	Strong transcription	Fetal Lung	lung
42	chr9:140668000-140678000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr9:140668000-140680000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr9:140668200-140698000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr9:140668200-140699000	Strong transcription	Esophagus	oesophagus
46	chr9:140668200-140700000	Strong transcription	Fetal Brain Female	brain
47	chr9:140668400-140677600	Strong transcription	Pancreas	Pancrea
48	chr9:140668400-140679400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr9:140668400-140679400	Strong transcription	NHEK	skin
50	chr9:140668400-140681800	Strong transcription	Spleen	Spleen

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