Variant report

Variant	nsv824871
Chromosome Location	chr9:18601501-18601968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2184002	chr9:18601564-18601565	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73644619	chr9:18601567-18601568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2184001	chr9:18601569-18601570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75103845	chr9:18601635-18601636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542248184	chr9:18601654-18601655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528524552	chr9:18601661-18601662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10963663	chr9:18601693-18601694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568785124	chr9:18601740-18601741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144652875	chr9:18601741-18601742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557648624	chr9:18601752-18601753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569478178	chr9:18601772-18601773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2151152	chr9:18601809-18601810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs71506878	chr9:18601824-18601825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572829394	chr9:18601836-18601837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541121952	chr9:18601848-18601849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148506823	chr9:18601894-18601895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs55772288	chr9:18601897-18601898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573538765	chr9:18601913-18601914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193243424	chr9:18601916-18601917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562413069	chr9:18601919-18601920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72416666	chr9:18601949-18601950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71333048	chr9:18601951-18601952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18584000-18603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:18588600-18605600	Weak transcription	NH-A	brain
3	chr9:18592600-18605800	Weak transcription	Aorta	Aorta
4	chr9:18594200-18605800	Weak transcription	HSMMtube	muscle
5	chr9:18595400-18602400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:18595800-18604600	Weak transcription	Fetal Stomach	stomach
7	chr9:18596000-18605800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:18598000-18603200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:18598000-18605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:18598200-18602000	Weak transcription	HSMM	muscle
11	chr9:18598800-18602200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:18599400-18604600	Weak transcription	Brain Germinal Matrix	brain
13	chr9:18600200-18602200	Enhancers	Osteobl	bone
14	chr9:18600600-18601600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:18600600-18602400	Enhancers	NHDF-Ad	bronchial
16	chr9:18600800-18601600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:18601400-18601600	Enhancers	Liver	Liver
18	chr9:18601400-18602200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:18601600-18605200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:18601800-18604800	Weak transcription	Liver	Liver

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