Variant report

Variant	esv3373370
Chromosome Location	chr9:12544154-12544615
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	rs180889749	chr9:12544163-12544164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73649621	chr9:12544199-12544200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576011418	chr9:12544252-12544253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143154130	chr9:12544264-12544265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555112781	chr9:12544291-12544292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138913174	chr9:12544294-12544295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540960832	chr9:12544298-12544299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564201828	chr9:12544303-12544304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531653548	chr9:12544324-12544325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373078989	chr9:12544351-12544352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142923031	chr9:12544359-12544360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78852439	chr9:12544368-12544369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563009602	chr9:12544393-12544394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531792950	chr9:12544469-12544470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553177174	chr9:12544476-12544477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548823675	chr9:12544504-12544505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183519005	chr9:12544505-12544506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527873940	chr9:12544507-12544508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548100033	chr9:12544548-12544549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118009296	chr9:12544549-12544550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369286196	chr9:12544570-12544571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561710657	chr9:12544591-12544592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200307629	chr9:12544592-12544593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1325140	chr9:12544593-12544594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549461622	chr9:12544594-12544595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1325141	chr9:12544595-12544596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77522227	chr9:12544597-12544598	Enhancers Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12540200-12544600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr9:12544400-12544600	Enhancers	Brain Germinal Matrix	brain
3	chr9:12544600-12546400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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