Variant report

Variant	esv16296
Chromosome Location	chr9:1639550-1640161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575642318	chr9:1639551-1639552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544271390	chr9:1639555-1639556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564605896	chr9:1639569-1639570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs771888	chr9:1639577-1639578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs200023304	chr9:1639619-1639620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534001747	chr9:1639624-1639625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78375595	chr9:1639654-1639655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528385221	chr9:1639677-1639678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139651577	chr9:1639688-1639689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73641784	chr9:1639705-1639706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559489598	chr9:1639719-1639720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547832558	chr9:1639743-1639744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530566997	chr9:1639745-1639746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187024934	chr9:1639756-1639757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570237442	chr9:1639761-1639762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191865733	chr9:1639763-1639764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149499100	chr9:1639787-1639788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs796423	chr9:1639837-1639838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73641785	chr9:1639843-1639844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79677912	chr9:1639853-1639854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556938695	chr9:1639863-1639864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77339026	chr9:1639881-1639882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs796424	chr9:1639935-1639936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538269065	chr9:1639940-1639941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185245460	chr9:1639958-1639959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144144356	chr9:1639979-1639980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540690147	chr9:1639982-1639983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559588470	chr9:1640090-1640091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71507932	chr9:1640107-1640108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs771890	chr9:1640109-1640110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562048341	chr9:1640117-1640118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1323227	chr9:1640127-1640128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148938714	chr9:1640129-1640130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550178197	chr9:1640141-1640142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	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
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
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
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
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
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1631800-1659000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1638800-1639800	Enhancers	NHEK	skin
3	chr9:1639000-1639600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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