Variant report

Variant	nsv1024274
Chromosome Location	chr9:1496424-1514379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:

Extended variants
information (count: 1175 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1175 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557765544	chr9:1496460-1496461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548641295	chr9:1496505-1496506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540767846	chr9:1496517-1496518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559234419	chr9:1496520-1496521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73640482	chr9:1496529-1496530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541721797	chr9:1496549-1496550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562034157	chr9:1496554-1496555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142363764	chr9:1496564-1496565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4740591	chr9:1496571-1496572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs76750690	chr9:1496581-1496582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76580917	chr9:1496585-1496586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7850035	chr9:1496606-1496607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374829144	chr9:1496618-1496619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78609823	chr9:1496635-1496636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116405342	chr9:1496643-1496644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188920847	chr9:1496664-1496665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1999436	chr9:1496686-1496687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7865917	chr9:1496693-1496694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7850059	chr9:1496696-1496697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150839788	chr9:1496698-1496699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557726610	chr9:1496729-1496730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577617963	chr9:1496742-1496743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369708220	chr9:1496754-1496755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139939034	chr9:1496755-1496756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370874725	chr9:1496781-1496782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554254062	chr9:1496828-1496829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572920801	chr9:1496833-1496834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541984458	chr9:1496858-1496859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77690406	chr9:1496877-1496878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575608495	chr9:1496912-1496913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7851244	chr9:1496915-1496916	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78926518	chr9:1496916-1496917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532961630	chr9:1496917-1496918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372423335	chr9:1496920-1496921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560171856	chr9:1496937-1496938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192538311	chr9:1496960-1496961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549546198	chr9:1496965-1496966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569153519	chr9:1496968-1496969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538101343	chr9:1496993-1496994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76380780	chr9:1496997-1496998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571271563	chr9:1497003-1497004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534217252	chr9:1497009-1497010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564580397	chr9:1497019-1497020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533431594	chr9:1497021-1497022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550416047	chr9:1497024-1497025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150145038	chr9:1497025-1497026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79682140	chr9:1497031-1497032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143371209	chr9:1497032-1497033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570239001	chr9:1497045-1497046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535804123	chr9:1497046-1497047	Enhancers 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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1496800-1497000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:1497000-1497200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
5	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
6	chr9:1511000-1511200	Enhancers	NHEK	skin
7	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
8	chr9:1512800-1514200	Enhancers	NHEK	skin
9	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
13	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
14	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas

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