Variant report

Variant	esv3366064
Chromosome Location	chr9:2597824-2598355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114893931	chr9:2597843-2597844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7040984	chr9:2597846-2597847	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575103602	chr9:2597919-2597920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544211871	chr9:2597921-2597922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563985149	chr9:2597925-2597926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533062985	chr9:2597963-2597964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540424368	chr9:2597972-2597973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145303472	chr9:2597981-2597982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529184649	chr9:2597990-2597991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185687564	chr9:2597994-2597995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188785581	chr9:2598021-2598022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570221768	chr9:2598071-2598072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569152380	chr9:2598075-2598076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181539289	chr9:2598125-2598126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550958753	chr9:2598143-2598144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570611363	chr9:2598151-2598152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542125761	chr9:2598163-2598164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113354897	chr9:2598187-2598188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566754082	chr9:2598245-2598246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2593800-2598600	Weak transcription	Ovary	ovary
2	chr9:2594000-2610400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:2597200-2598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:2597800-2600800	Weak transcription	Fetal Heart	heart
5	chr9:2597800-2613800	Weak transcription	Psoas Muscle	Psoas
6	chr9:2598200-2602600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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