Variant report

Variant	esv3447430
Chromosome Location	chr9:17569002-17571000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554632401	chr9:17569024-17569025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77775527	chr9:17569054-17569055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181106605	chr9:17569061-17569062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557185684	chr9:17569076-17569077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185652831	chr9:17569092-17569093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546098997	chr9:17569107-17569108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558056134	chr9:17569118-17569119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7039273	chr9:17569130-17569131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531130137	chr9:17569168-17569169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75033962	chr9:17569174-17569175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530201144	chr9:17569184-17569185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191547257	chr9:17569201-17569202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563517868	chr9:17569210-17569211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183711991	chr9:17569233-17569234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370744196	chr9:17569250-17569251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552366123	chr9:17569252-17569253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78185691	chr9:17569259-17569260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528788215	chr9:17569279-17569280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143429206	chr9:17569295-17569296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2254582	chr9:17569341-17569342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35689925	chr9:17569352-17569353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535520389	chr9:17569387-17569388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532066569	chr9:17569417-17569418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186993617	chr9:17569426-17569427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568996043	chr9:17569459-17569460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146692855	chr9:17569472-17569473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192399185	chr9:17569500-17569501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371766347	chr9:17569595-17569596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529413556	chr9:17569602-17569603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553314921	chr9:17569603-17569604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73412652	chr9:17569607-17569608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182152787	chr9:17569624-17569625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73412656	chr9:17569626-17569627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575342278	chr9:17569646-17569647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371927713	chr9:17569649-17569650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564388894	chr9:17569717-17569718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186739153	chr9:17569728-17569729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191546024	chr9:17569746-17569747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375244543	chr9:17569804-17569805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544479437	chr9:17569806-17569807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374642754	chr9:17569807-17569808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202052409	chr9:17569823-17569824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573918760	chr9:17569825-17569826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71876106	chr9:17569826-17569827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397833861	chr9:17569829-17569830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376267601	chr9:17569831-17569832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200850688	chr9:17569833-17569834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56966953	chr9:17569835-17569836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59387970	chr9:17569882-17569883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75859533	chr9:17569895-17569896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Lung adenocarcinoma	21935476	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17567600-17571400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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