Variant report

Variant	nsv613691
Chromosome Location	chr9:16958700-17002275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1464 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4961430	chr9:16958700-16958701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542741309	chr9:16958704-16958705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369837129	chr9:16958718-16958719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552818392	chr9:16958765-16958766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367995517	chr9:16958783-16958784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535277358	chr9:16958787-16958788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557147939	chr9:16958788-16958789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144456887	chr9:16958800-16958801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545958614	chr9:16958824-16958825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561008144	chr9:16958849-16958850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557893936	chr9:16958907-16958908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572827963	chr9:16958922-16958923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540250306	chr9:16958936-16958937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56691595	chr9:16958952-16958953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111436814	chr9:16959034-16959035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181998461	chr9:16959079-16959080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544479939	chr9:16959118-16959119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10962768	chr9:16959173-16959174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7042688	chr9:16959184-16959185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183690780	chr9:16959185-16959186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151118922	chr9:16959202-16959203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566644335	chr9:16959266-16959267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1104942	chr9:16959270-16959271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548999510	chr9:16959315-16959316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565007068	chr9:16959345-16959346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568242643	chr9:16959348-16959349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535785426	chr9:16959400-16959401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372666271	chr9:16959431-16959432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556137917	chr9:16959435-16959436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556865800	chr9:16959437-16959438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371175731	chr9:16959530-16959531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs946543	chr9:16959540-16959541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539645627	chr9:16959545-16959546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10810697	chr9:16959546-16959547	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573010932	chr9:16959565-16959566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540213974	chr9:16959572-16959573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72432685	chr9:16959579-16959580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150244062	chr9:16959641-16959642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568037282	chr9:16959642-16959643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574241919	chr9:16959666-16959667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536288245	chr9:16959668-16959669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10962769	chr9:16959695-16959696	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10962770	chr9:16959711-16959712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533323132	chr9:16959761-16959762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75744295	chr9:16959763-16959764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369908096	chr9:16959773-16959774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545211671	chr9:16959781-16959782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560627509	chr9:16959916-16959917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78111884	chr9:16959927-16959928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548958782	chr9:16959955-16959956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16958200-16958800	Enhancers	NHDF-Ad	bronchial
2	chr9:16958800-16960000	Weak transcription	NHDF-Ad	bronchial
3	chr9:16959400-16960400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:16959800-16960600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:16959800-16960600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:16959800-16960600	Enhancers	Hela-S3	cervix
7	chr9:16960000-16960400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:16960000-16960400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:16960000-16960600	Enhancers	NHDF-Ad	bronchial
10	chr9:16960000-16960600	Enhancers	NHLF	lung
11	chr9:16960400-16963200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:16960400-16963600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:16960400-16964000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:16960600-16963600	Weak transcription	NHDF-Ad	bronchial
15	chr9:16960600-16963600	Weak transcription	NHLF	lung
16	chr9:16960600-16963800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:16960600-16963800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:16963200-16963600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:16963400-16963800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:16963600-16964200	Enhancers	NHLF	lung
21	chr9:16963600-16965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:16963600-16965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:16963600-16965200	Enhancers	NHDF-Ad	bronchial
24	chr9:16963800-16964200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:16963800-16964200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr9:16963800-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:16963800-16964400	Enhancers	NH-A	brain
28	chr9:16963800-16965200	Enhancers	Osteobl	bone
29	chr9:16964000-16964200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:16964000-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:16964000-16964400	ZNF genes & repeats	Aorta	Aorta
32	chr9:16964200-16964400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:16964200-16964800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:16965200-16969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:16965200-16970600	Weak transcription	NHDF-Ad	bronchial
36	chr9:16969200-16970000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:16970000-16970400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:16970400-16971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:16970600-16971200	Enhancers	NHDF-Ad	bronchial
40	chr9:16982800-16983200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:16982800-16983400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:16983000-16983800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr9:16983000-16984400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:16983200-16983800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:16983400-16984200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr9:16983400-16984600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:16983600-16983800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:16983800-16984000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:16983800-16984400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:16983800-16984600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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