Variant report

Variant	nsv824866
Chromosome Location	chr9:16563830-16565983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs943744	chr9:16563907-16563908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549934028	chr9:16563949-16563950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541147518	chr9:16563995-16563996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559452408	chr9:16564000-16564001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530322982	chr9:16564001-16564002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149990457	chr9:16564007-16564008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370008104	chr9:16564010-16564011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376269826	chr9:16564056-16564057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188357081	chr9:16564071-16564072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570371015	chr9:16564095-16564096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs943745	chr9:16564112-16564113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552569825	chr9:16564125-16564126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73419408	chr9:16564140-16564141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534984665	chr9:16564164-16564165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568312665	chr9:16564168-16564169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568168897	chr9:16564179-16564180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536087705	chr9:16564182-16564183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12683382	chr9:16564187-16564188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73419411	chr9:16564214-16564215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576316678	chr9:16564241-16564242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543327392	chr9:16564254-16564255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74375224	chr9:16564264-16564265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192220262	chr9:16564307-16564308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111679261	chr9:16564312-16564313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112438772	chr9:16564360-16564361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374772450	chr9:16564393-16564394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540981902	chr9:16564403-16564404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559538539	chr9:16564408-16564409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529807309	chr9:16564416-16564417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374488824	chr9:16564424-16564425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12338548	chr9:16564464-16564465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185804916	chr9:16564586-16564587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531107050	chr9:16564589-16564590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576899931	chr9:16564681-16564682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539498238	chr9:16564704-16564705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571085968	chr9:16564708-16564709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528469787	chr9:16564714-16564715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546586298	chr9:16564743-16564744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568255845	chr9:16564755-16564756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199610324	chr9:16564803-16564804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143667264	chr9:16564804-16564805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190328737	chr9:16564806-16564807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554368231	chr9:16564827-16564828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375997464	chr9:16564836-16564837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569771076	chr9:16564854-16564855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555786849	chr9:16564889-16564890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138103984	chr9:16564918-16564919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577065849	chr9:16564919-16564920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149533346	chr9:16564933-16564934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182155916	chr9:16564959-16564960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	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
Glioblastoma multiforme	18628472	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16542600-16564000	Weak transcription	HUVEC	blood vessel
2	chr9:16543800-16567000	Weak transcription	HSMMtube	muscle
3	chr9:16546000-16568400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:16551800-16567800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:16552000-16567800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:16552800-16566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:16552800-16570200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:16552800-16571000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:16552800-16571400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:16553000-16570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:16553000-16575200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:16556400-16566000	Weak transcription	Fetal Stomach	stomach
13	chr9:16556400-16569200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:16556400-16570600	Weak transcription	NHLF	lung
15	chr9:16556400-16575600	Weak transcription	HSMM	muscle
16	chr9:16560200-16571200	Weak transcription	Ovary	ovary
17	chr9:16560200-16571400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:16560200-16571600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:16563400-16564600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:16563600-16564200	Enhancers	Osteobl	bone
21	chr9:16564200-16570600	Weak transcription	Osteobl	bone
22	chr9:16564400-16564600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:16564600-16566600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:16564600-16570600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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