Variant report

Variant	nsv1028681
Chromosome Location	chr9:16945955-16976555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 776 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:776 , 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	rs577525908	chr9:16949805-16949806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112161741	chr9:16949819-16949820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12349681	chr9:16949833-16949834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148721363	chr9:16949839-16949840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142205249	chr9:16949847-16949848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114184515	chr9:16949873-16949874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182725662	chr9:16949881-16949882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531686702	chr9:16949900-16949901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75383077	chr9:16949921-16949922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10962762	chr9:16949930-16949931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147850871	chr9:16949949-16949950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547787367	chr9:16949964-16949965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566639324	chr9:16949978-16949979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77174331	chr9:16949987-16949988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2790062	chr9:16949988-16949989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2790061	chr9:16949990-16949991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112081981	chr9:16949999-16950000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573922147	chr9:16950022-16950023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538047254	chr9:16950030-16950031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571708842	chr9:16950043-16950044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568638494	chr9:16950044-16950045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111450989	chr9:16950175-16950176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145224665	chr9:16950202-16950203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544643511	chr9:16950208-16950209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553762121	chr9:16950210-16950211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192159449	chr9:16950217-16950218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542958355	chr9:16950228-16950229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561258415	chr9:16950244-16950245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557680453	chr9:16950246-16950247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75220367	chr9:16950269-16950270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116552019	chr9:16950309-16950310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565202582	chr9:16950333-16950334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532675883	chr9:16950354-16950355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369624115	chr9:16950371-16950372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183620601	chr9:16950412-16950413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189005405	chr9:16950438-16950439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7861998	chr9:16950480-16950481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369964968	chr9:16950484-16950485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193137875	chr9:16950486-16950487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538010198	chr9:16950489-16950490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147626838	chr9:16950513-16950514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73426895	chr9:16950547-16950548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538752790	chr9:16950549-16950550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549568250	chr9:16950566-16950567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112108110	chr9:16950569-16950570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535991422	chr9:16950597-16950598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200778526	chr9:16954487-16954488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533716291	chr9:16954489-16954490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1416743	chr9:16954497-16954498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140498125	chr9:16954508-16954509	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16949800-16950400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:16949800-16950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:16950200-16950600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr9:16950200-16950600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:16950200-16950600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr9:16954400-16954600	Enhancers	Fetal Kidney	kidney
7	chr9:16958200-16958800	Enhancers	NHDF-Ad	bronchial
8	chr9:16958800-16960000	Weak transcription	NHDF-Ad	bronchial
9	chr9:16959400-16960400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:16959800-16960600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:16959800-16960600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:16959800-16960600	Enhancers	Hela-S3	cervix
13	chr9:16960000-16960400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:16960000-16960400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:16960000-16960600	Enhancers	NHDF-Ad	bronchial
16	chr9:16960000-16960600	Enhancers	NHLF	lung
17	chr9:16960400-16963200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:16960400-16963600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:16960400-16964000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:16960600-16963600	Weak transcription	NHDF-Ad	bronchial
21	chr9:16960600-16963600	Weak transcription	NHLF	lung
22	chr9:16960600-16963800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:16960600-16963800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:16963200-16963600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:16963400-16963800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:16963600-16964200	Enhancers	NHLF	lung
27	chr9:16963600-16965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:16963600-16965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:16963600-16965200	Enhancers	NHDF-Ad	bronchial
30	chr9:16963800-16964200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:16963800-16964200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr9:16963800-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:16963800-16964400	Enhancers	NH-A	brain
34	chr9:16963800-16965200	Enhancers	Osteobl	bone
35	chr9:16964000-16964200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:16964000-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:16964000-16964400	ZNF genes & repeats	Aorta	Aorta
38	chr9:16964200-16964400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:16964200-16964800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:16965200-16969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:16965200-16970600	Weak transcription	NHDF-Ad	bronchial
42	chr9:16969200-16970000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:16970000-16970400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:16970400-16971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:16970600-16971200	Enhancers	NHDF-Ad	bronchial

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