Variant report

Variant	esv3499816
Chromosome Location	chr9:9950332-9950868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80019690	chr9:9950334-9950335	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539850998	chr9:9950372-9950373	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs62536919	chr9:9950378-9950379	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146180863	chr9:9950381-9950382	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377463310	chr9:9950398-9950399	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs115568182	chr9:9950434-9950435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543890573	chr9:9950441-9950442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369798536	chr9:9950444-9950445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188653961	chr9:9950446-9950447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543992149	chr9:9950458-9950459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548428655	chr9:9950488-9950489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561854037	chr9:9950500-9950501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563767804	chr9:9950556-9950557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527637594	chr9:9950596-9950597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547395636	chr9:9950640-9950641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570601157	chr9:9950680-9950681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71497161	chr9:9950688-9950689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71497162	chr9:9950703-9950704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528953358	chr9:9950710-9950711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192985842	chr9:9950717-9950718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71497163	chr9:9950720-9950721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200948375	chr9:9950757-9950758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202084243	chr9:9950758-9950759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148412683	chr9:9950791-9950792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12345011	chr9:9950798-9950799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183189857	chr9:9950830-9950831	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569534937	chr9:9950840-9950841	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528111667	chr9:9950843-9950844	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs72692758	chr9:9950848-9950849	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:114)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9949600-9950400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:9949800-9950400	Flanking Active TSS	Fetal Heart	heart
3	chr9:9950000-9950400	Enhancers	Left Ventricle	heart
4	chr9:9950000-9951400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:9950000-9952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:9950400-9950800	Enhancers	Fetal Heart	heart
7	chr9:9950800-9951200	Flanking Active TSS	Fetal Heart	heart
8	chr9:9950800-9952600	Enhancers	Primary hematopoietic stem cells	blood

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