Variant report

Variant	esv3388214
Chromosome Location	chr9:14879673-14879837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143798286	chr9:14879673-14879674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554316482	chr9:14879677-14879678	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs72713613	chr9:14879678-14879679	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552400644	chr9:14879720-14879721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2065484	chr9:14879724-14879725	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs72713614	chr9:14879735-14879736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375381511	chr9:14879738-14879739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2065483	chr9:14879740-14879741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140768850	chr9:14879744-14879745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529946033	chr9:14879758-14879759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs117740931	chr9:14879768-14879769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs188189645	chr9:14879775-14879776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs560240760	chr9:14879785-14879786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547484468	chr9:14879798-14879799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565790865	chr9:14879799-14879800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192052075	chr9:14879837-14879838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	21611746	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
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14860000-14883800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:14877200-14881200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:14877200-14889400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:14877400-14880800	Weak transcription	Fetal Lung	lung
5	chr9:14877800-14883800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:14877800-14888400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:14878600-14880000	Weak transcription	HepG2	liver
8	chr9:14878600-14888200	Weak transcription	Fetal Kidney	kidney
9	chr9:14879200-14880200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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