Variant report

Variant	esv3396418
Chromosome Location	chr9:16390950-16391314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369724791	chr9:16390954-16390955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556306622	chr9:16390956-16390957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4961487	chr9:16390974-16390975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527421070	chr9:16391043-16391044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548788012	chr9:16391044-16391045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140218104	chr9:16391062-16391063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375974898	chr9:16391076-16391077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150317590	chr9:16391093-16391094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182015282	chr9:16391105-16391106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531910984	chr9:16391106-16391107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138909381	chr9:16391123-16391124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184751570	chr9:16391136-16391137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539338627	chr9:16391144-16391145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547813456	chr9:16391146-16391147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190209558	chr9:16391174-16391175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565923214	chr9:16391200-16391201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376961290	chr9:16391212-16391213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7850261	chr9:16391219-16391220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527624407	chr9:16391231-16391232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4246147	chr9:16391234-16391235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537610705	chr9:16391291-16391292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4442246	chr9:16391294-16391295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs560668502	chr9:16391297-16391298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186590062	chr9:16391300-16391301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16388800-16393400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:16390400-16393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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