Variant report

Variant	nsv466279
Chromosome Location	chr9:17699981-17726581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 291 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs717372	chr9:17699981-17699982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35908750	chr9:17699994-17699995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74516771	chr9:17700028-17700029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11791082	chr9:17700029-17700030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552646868	chr9:17700041-17700042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73645144	chr9:17700056-17700057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201724373	chr9:17700060-17700061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535254503	chr9:17700068-17700069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190316390	chr9:17700125-17700126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575417843	chr9:17700135-17700136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141535434	chr9:17700139-17700140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558637781	chr9:17700152-17700153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577417180	chr9:17700182-17700183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541581687	chr9:17700188-17700189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147726149	chr9:17700195-17700196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568251730	chr9:17700200-17700201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559872927	chr9:17700227-17700228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78295587	chr9:17700236-17700237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542032464	chr9:17700268-17700269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73645145	chr9:17700293-17700294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182554505	chr9:17700334-17700335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150883346	chr9:17700364-17700365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs998599	chr9:17700366-17700367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs6475164	chr9:17700375-17700376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138285046	chr9:17700389-17700390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567793190	chr9:17700405-17700406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185936884	chr9:17700407-17700408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142864251	chr9:17700420-17700421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376991795	chr9:17700495-17700496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74305189	chr9:17700560-17700561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114171387	chr9:17700564-17700565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146046251	chr9:17700573-17700574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74305190	chr9:17700587-17700588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534996044	chr9:17700632-17700633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1000770	chr9:17700646-17700647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4461996	chr9:17700650-17700651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189856330	chr9:17700726-17700727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563684192	chr9:17700728-17700729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575792393	chr9:17700758-17700759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546221405	chr9:17700776-17700777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564423376	chr9:17700848-17700849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181115875	chr9:17700860-17700861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11795147	chr9:17700871-17700872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140048432	chr9:17700893-17700894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112639080	chr9:17700895-17700896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149743728	chr9:17700932-17700933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528937774	chr9:17700944-17700945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576720648	chr9:17701035-17701036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185762761	chr9:17701043-17701044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190357032	chr9:17701055-17701056	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Lung adenocarcinoma	21935476	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17699400-17700600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:17699400-17700600	Enhancers	Fetal Brain Male	brain
3	chr9:17699800-17700600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:17699800-17701400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:17706800-17707400	Enhancers	Fetal Intestine Large	intestine
6	chr9:17707200-17707600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:17707400-17707800	Weak transcription	Fetal Intestine Large	intestine
8	chr9:17707600-17708400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr9:17707800-17708200	Enhancers	Fetal Intestine Large	intestine
10	chr9:17708400-17709600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr9:17720800-17721200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr9:17721000-17721200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:17721800-17722400	Enhancers	Dnd41	blood
14	chr9:17722800-17723200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:17725600-17726400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:17725800-17726800	Enhancers	Liver	Liver

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