Variant report

Variant	nsv6496
Chromosome Location	chr9:18586934-18609801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1045 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1045 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201099097	chr9:18586983-18586984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566806610	chr9:18586993-18586994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534207499	chr9:18587043-18587044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148631398	chr9:18587049-18587050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371876556	chr9:18587062-18587063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7040355	chr9:18587063-18587064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538517146	chr9:18587077-18587078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556526788	chr9:18587083-18587084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578114810	chr9:18587086-18587087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538813620	chr9:18587087-18587088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553831697	chr9:18587098-18587099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572015567	chr9:18587102-18587103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10963653	chr9:18587110-18587111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151132925	chr9:18587127-18587128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575978733	chr9:18587149-18587150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543305614	chr9:18587157-18587158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139990891	chr9:18587163-18587164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190409110	chr9:18587202-18587203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7867475	chr9:18587204-18587205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149864706	chr9:18587209-18587210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549426397	chr9:18587217-18587218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567660313	chr9:18587227-18587228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7867370	chr9:18587239-18587240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550455929	chr9:18587243-18587244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551118998	chr9:18587265-18587266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116466880	chr9:18587273-18587274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570857974	chr9:18587304-18587305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565467552	chr9:18587342-18587343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112548126	chr9:18587344-18587345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115779393	chr9:18587354-18587355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575644234	chr9:18587357-18587358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543004459	chr9:18587362-18587363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558835797	chr9:18587475-18587476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577030003	chr9:18587488-18587489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149634243	chr9:18587497-18587498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374574418	chr9:18587502-18587503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541256625	chr9:18587525-18587526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559260592	chr9:18587531-18587532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527834144	chr9:18587692-18587693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377427965	chr9:18587712-18587713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543133391	chr9:18587731-18587732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561326183	chr9:18587734-18587735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531737942	chr9:18587751-18587752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185197135	chr9:18587761-18587762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376920522	chr9:18587767-18587768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532674932	chr9:18587782-18587783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548019148	chr9:18587783-18587784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141788765	chr9:18587785-18587786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1578428	chr9:18587804-18587805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554247347	chr9:18587816-18587817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18564400-18591800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:18569800-18601000	Weak transcription	NHLF	lung
3	chr9:18570200-18591800	Weak transcription	Aorta	Aorta
4	chr9:18581200-18588400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:18583800-18595000	Weak transcription	Fetal Stomach	stomach
6	chr9:18584000-18603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:18584200-18594800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:18584400-18587800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:18584800-18595600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:18585000-18587600	Weak transcription	NH-A	brain
11	chr9:18585200-18587600	Weak transcription	NHDF-Ad	bronchial
12	chr9:18585600-18587600	Weak transcription	Osteobl	bone
13	chr9:18585800-18587400	Weak transcription	HSMM	muscle
14	chr9:18586800-18587400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:18587400-18588400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:18587400-18589200	Enhancers	HSMM	muscle
17	chr9:18587600-18588200	Enhancers	Osteobl	bone
18	chr9:18587600-18588600	Enhancers	NH-A	brain
19	chr9:18587600-18588600	Enhancers	NHDF-Ad	bronchial
20	chr9:18587800-18588600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:18588000-18588600	Enhancers	HSMMtube	muscle
22	chr9:18588200-18588600	Flanking Active TSS	Osteobl	bone
23	chr9:18588200-18588800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:18588400-18588800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:18588400-18589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:18588600-18589800	Weak transcription	NHDF-Ad	bronchial
27	chr9:18588600-18590000	Weak transcription	Osteobl	bone
28	chr9:18588600-18591200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:18588600-18605600	Weak transcription	NH-A	brain
30	chr9:18588800-18590600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:18588800-18591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:18589200-18591200	Weak transcription	HSMM	muscle
33	chr9:18589600-18592200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:18589800-18591600	ZNF genes & repeats	NHDF-Ad	bronchial
35	chr9:18590000-18592400	Strong transcription	Osteobl	bone
36	chr9:18590600-18592600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:18591000-18592200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:18591200-18592600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
39	chr9:18591200-18592600	Strong transcription	HSMM	muscle
40	chr9:18591400-18592800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:18591600-18592400	Strong transcription	NHDF-Ad	bronchial
42	chr9:18591800-18592200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:18591800-18592600	Strong transcription	Aorta	Aorta
44	chr9:18592000-18595400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:18592200-18593200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:18592200-18595400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:18592200-18595400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:18592200-18596800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:18592400-18594800	Weak transcription	Osteobl	bone
50	chr9:18592400-18595200	Weak transcription	NHDF-Ad	bronchial

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