Variant report

Variant	esv3481954
Chromosome Location	chr9:12556515-12559883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539972929	chr9:12556516-12556517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145219211	chr9:12556559-12556560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576607067	chr9:12556566-12556567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546215937	chr9:12556573-12556574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542361718	chr9:12556602-12556603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147621765	chr9:12556605-12556606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572662545	chr9:12556610-12556611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540645500	chr9:12556624-12556625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563775144	chr9:12556640-12556641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532758473	chr9:12556652-12556653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543162405	chr9:12556670-12556671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149103672	chr9:12556746-12556747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562704322	chr9:12556751-12556752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28802375	chr9:12556779-12556780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142227771	chr9:12556790-12556791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184104558	chr9:12556798-12556799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201774080	chr9:12559611-12559612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528955056	chr9:12559632-12559633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542337390	chr9:12559669-12559670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181144715	chr9:12559698-12559699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528284550	chr9:12559753-12559754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551745251	chr9:12559787-12559788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186943759	chr9:12559790-12559791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111253274	chr9:12559823-12559824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533374905	chr9:12559862-12559863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191829996	chr9:12559872-12559873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570071054	chr9:12559873-12559874	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
abnormal development	18461090	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
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
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
Cancer	20164920	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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12555400-12556800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:12559600-12560000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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