Variant report

Variant	esv1146619
Chromosome Location	chr9:86558265-86558273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86555752..86558711-chr9:86579434..86581068,2	K562	blood:
2	chr9:86557117..86561082-chr9:86568823..86572944,4	MCF-7	breast:
3	chr9:86551370..86553240-chr9:86557554..86559080,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165118	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60922874	chr9:86558266-86558267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76006097	chr9:86558268-86558269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11140304	chr9:86558270-86558271	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86536600-86571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:86543000-86571000	Weak transcription	Esophagus	oesophagus
3	chr9:86547200-86570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:86548000-86567000	Weak transcription	GM12878-XiMat	blood
5	chr9:86549000-86570200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:86550200-86559200	Weak transcription	Brain Anterior Caudate	brain
7	chr9:86550200-86570400	Weak transcription	Aorta	Aorta
8	chr9:86550400-86569200	Weak transcription	Fetal Heart	heart
9	chr9:86550400-86570400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:86550600-86559200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:86550600-86569000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:86550800-86558400	Weak transcription	NHLF	lung
13	chr9:86550800-86563800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:86550800-86568800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:86550800-86570400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:86551000-86559200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:86551000-86570400	Weak transcription	Stomach Mucosa	stomach
18	chr9:86551000-86570400	Weak transcription	NH-A	brain
19	chr9:86551600-86570000	Weak transcription	Fetal Brain Male	brain
20	chr9:86551600-86570200	Weak transcription	NHEK	skin
21	chr9:86552000-86562000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:86552000-86570400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:86552000-86570400	Weak transcription	Spleen	Spleen
24	chr9:86552200-86559200	Weak transcription	HSMM	muscle
25	chr9:86552400-86559400	Strong transcription	Fetal Brain Female	brain
26	chr9:86552400-86560200	Strong transcription	Adipose Nuclei	Adipose
27	chr9:86552600-86559800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr9:86552800-86560200	Strong transcription	HepG2	liver
29	chr9:86552800-86561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:86553000-86558800	Weak transcription	Fetal Kidney	kidney
31	chr9:86553000-86559200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:86553000-86561800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:86553000-86561800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:86553000-86570400	Weak transcription	Colonic Mucosa	Colon
35	chr9:86553200-86562200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:86553400-86559400	Strong transcription	Osteobl	bone
37	chr9:86553400-86562000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr9:86553400-86563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:86553600-86558400	Strong transcription	Primary T cells from cord blood	blood
40	chr9:86553600-86558600	Strong transcription	Brain Angular Gyrus	brain
41	chr9:86553600-86559400	Strong transcription	Fetal Thymus	thymus
42	chr9:86553600-86560200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:86553600-86560200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:86553600-86560200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:86553600-86560200	Strong transcription	Colon Smooth Muscle	Colon
46	chr9:86553600-86560400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:86553600-86560800	Strong transcription	Left Ventricle	heart
48	chr9:86553600-86561600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:86553600-86562000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:86553600-86562600	Strong transcription	Fetal Muscle Leg	muscle

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