Variant report

Variant	nsv1028176
Chromosome Location	chr9:1549908-1583224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 780 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:780 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573336900	chr9:1549945-1549946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189934921	chr9:1549947-1549948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116371332	chr9:1549987-1549988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558055747	chr9:1550014-1550015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578010344	chr9:1550041-1550042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568041779	chr9:1550048-1550049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146130597	chr9:1550053-1550054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140113579	chr9:1550061-1550062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542748529	chr9:1550069-1550070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117373942	chr9:1550079-1550080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375827667	chr9:1550099-1550100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545220333	chr9:1550109-1550110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565205550	chr9:1550130-1550131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143938664	chr9:1550157-1550158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547468227	chr9:1550196-1550197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567690174	chr9:1550208-1550209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182106722	chr9:1550240-1550241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550274903	chr9:1550241-1550242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570184338	chr9:1550271-1550272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538004072	chr9:1550285-1550286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79555899	chr9:1550299-1550300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571520593	chr9:1550319-1550320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10962025	chr9:1550320-1550321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114029449	chr9:1550337-1550338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573616958	chr9:1550342-1550343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17723131	chr9:1550403-1550404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74425086	chr9:1550412-1550413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146871900	chr9:1550436-1550437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115021210	chr9:1550437-1550438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545160596	chr9:1550534-1550535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371179999	chr9:1550546-1550547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72692348	chr9:1550549-1550550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561394558	chr9:1550561-1550562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530245446	chr9:1550563-1550564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148520378	chr9:1550604-1550605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189516337	chr9:1550605-1550606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180696332	chr9:1550621-1550622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561102097	chr9:1550638-1550639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73386022	chr9:1550655-1550656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142787008	chr9:1550664-1550665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570123943	chr9:1550698-1550699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185319199	chr9:1550724-1550725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551599281	chr9:1550736-1550737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151026120	chr9:1550756-1550757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140990790	chr9:1550770-1550771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540386641	chr9:1550789-1550790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532747906	chr9:1550807-1550808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567473089	chr9:1550817-1550818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550930737	chr9:1550818-1550819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536212670	chr9:1550858-1550859	Weak transcription Enhancers	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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1549400-1558600	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1550600-1551000	Enhancers	Fetal Muscle Leg	muscle
3	chr9:1551000-1553200	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:1553200-1554600	Enhancers	Fetal Muscle Leg	muscle
5	chr9:1553200-1555200	Enhancers	Fetal Lung	lung
6	chr9:1553600-1554000	Enhancers	Fetal Stomach	stomach
7	chr9:1554000-1554600	Enhancers	Fetal Kidney	kidney
8	chr9:1558400-1559200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr9:1558600-1558800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr9:1574600-1575000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr9:1575400-1576200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:1575800-1576200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:1579800-1580200	Enhancers	GM12878-XiMat	blood
14	chr9:1580200-1580600	Active TSS	GM12878-XiMat	blood

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