Variant report

Variant	nsv613074
Chromosome Location	chr9:1503556-1513849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 675 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1576747	chr9:1503556-1503557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543980563	chr9:1503602-1503603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1576746	chr9:1503647-1503648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147776257	chr9:1503648-1503649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546825395	chr9:1503663-1503664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116789022	chr9:1503678-1503679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367924673	chr9:1503693-1503694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529591807	chr9:1503699-1503700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548921548	chr9:1503708-1503709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553697207	chr9:1503713-1503714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371353928	chr9:1503716-1503717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569171059	chr9:1503742-1503743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538305300	chr9:1503753-1503754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557990326	chr9:1503782-1503783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374120145	chr9:1503806-1503807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573514871	chr9:1503827-1503828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553242688	chr9:1503844-1503845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192097168	chr9:1503859-1503860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10756630	chr9:1503869-1503870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78029883	chr9:1503876-1503877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575146438	chr9:1503891-1503892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544224032	chr9:1503892-1503893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564009793	chr9:1503896-1503897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372030072	chr9:1503901-1503902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58945952	chr9:1503910-1503911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183847258	chr9:1503920-1503921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139427573	chr9:1503923-1503924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145137952	chr9:1503956-1503957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549429397	chr9:1503964-1503965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10961807	chr9:1503981-1503982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569203725	chr9:1503991-1503992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531583337	chr9:1504008-1504009	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551785035	chr9:1504018-1504019	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571639614	chr9:1504053-1504054	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534335515	chr9:1504076-1504077	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546768675	chr9:1504079-1504080	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566682525	chr9:1504094-1504095	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80351974	chr9:1504097-1504098	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147585520	chr9:1504101-1504102	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575530011	chr9:1504131-1504132	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187624332	chr9:1504162-1504163	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557782346	chr9:1504170-1504171	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577273320	chr9:1504184-1504185	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539950810	chr9:1504191-1504192	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190699669	chr9:1504195-1504196	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182374057	chr9:1504205-1504206	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187044965	chr9:1504206-1504207	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78165500	chr9:1504216-1504217	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368714083	chr9:1504223-1504224	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532070544	chr9:1504234-1504235	Strong 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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
3	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
4	chr9:1511000-1511200	Enhancers	NHEK	skin
5	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
6	chr9:1512800-1514200	Enhancers	NHEK	skin
7	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
11	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose

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