Variant report

Variant	esv3350809
Chromosome Location	chr9:2485705-2486122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2486116-2486306	l_3727_chr9:2411588-2611526_ovary

Extended variants
information (count: 23 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190797294	chr9:2485714-2485715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568640546	chr9:2485733-2485734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542551019	chr9:2485739-2485740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537628418	chr9:2485758-2485759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551568269	chr9:2485759-2485760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571423540	chr9:2485770-2485771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117394488	chr9:2485780-2485781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368134612	chr9:2485785-2485786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553360985	chr9:2485808-2485809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573263168	chr9:2485810-2485811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535896781	chr9:2485830-2485831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555873349	chr9:2485863-2485864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118176514	chr9:2485899-2485900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370241004	chr9:2485904-2485905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183132336	chr9:2485929-2485930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540362613	chr9:2485950-2485951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1331460	chr9:2485953-2485954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368152438	chr9:2485982-2485983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1331461	chr9:2485997-2485998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540517887	chr9:2486060-2486061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1331462	chr9:2486069-2486070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187818531	chr9:2486095-2486096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548604261	chr9:2486117-2486118	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2466200-2493000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:2476200-2493600	Weak transcription	Fetal Brain Female	brain
3	chr9:2478400-2492600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:2479800-2486600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:2484800-2493600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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