Variant report

Variant	esv3419201
Chromosome Location	chr9:72187712-72187968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557843387	chr9:72187768-72187769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568788432	chr9:72187771-72187772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547666834	chr9:72187875-72187876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566002634	chr9:72187876-72187877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536220062	chr9:72187881-72187882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12552474	chr9:72187906-72187907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540426055	chr9:72187960-72187961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72173800-72188400	Weak transcription	Fetal Lung	lung
2	chr9:72180400-72208400	Weak transcription	Gastric	stomach
3	chr9:72181000-72195000	Weak transcription	Left Ventricle	heart
4	chr9:72181200-72188400	Weak transcription	Liver	Liver
5	chr9:72181400-72193000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:72181800-72188000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:72183800-72189400	Enhancers	NH-A	brain
8	chr9:72184000-72187800	Enhancers	NHDF-Ad	bronchial
9	chr9:72184000-72188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:72184800-72189800	Enhancers	HUVEC	blood vessel
11	chr9:72185200-72192800	Weak transcription	Brain Anterior Caudate	brain
12	chr9:72185400-72188400	Weak transcription	Fetal Heart	heart
13	chr9:72185400-72189400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:72185400-72194000	Weak transcription	Ovary	ovary
15	chr9:72185400-72195200	Weak transcription	Brain Germinal Matrix	brain
16	chr9:72185600-72193000	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:72186000-72188600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:72186200-72195000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:72186200-72200800	Weak transcription	HSMMtube	muscle
20	chr9:72186400-72188600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:72186800-72188000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:72186800-72188600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:72186800-72188600	Weak transcription	NHEK	skin
24	chr9:72186800-72189400	Enhancers	Fetal Muscle Leg	muscle
25	chr9:72187200-72187800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:72187200-72187800	Enhancers	Fetal Brain Male	brain
27	chr9:72187400-72187800	Enhancers	NHLF	lung
28	chr9:72187400-72188400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:72187400-72189400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:72187400-72189400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:72187400-72189400	Enhancers	Osteobl	bone
32	chr9:72187400-72204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:72187600-72187800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr9:72187600-72188400	Weak transcription	HSMM	muscle
35	chr9:72187600-72188600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:72187600-72189400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:72187800-72188200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:72187800-72188600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:72187800-72188600	Weak transcription	Fetal Brain Male	brain
40	chr9:72187800-72198600	Weak transcription	NHDF-Ad	bronchial

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