Variant report

Variant	nsv613683
Chromosome Location	chr9:16883737-16884874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116158422	chr9:16883781-16883782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs5896716	chr9:16883802-16883803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397894334	chr9:16883804-16883805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76282388	chr9:16883828-16883829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544166227	chr9:16883918-16883919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376212214	chr9:16883936-16883937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148707862	chr9:16883968-16883969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530669073	chr9:16883980-16883981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552098159	chr9:16883985-16883986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542451827	chr9:16883994-16883995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372816427	chr9:16884034-16884035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528307452	chr9:16884157-16884158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75787446	chr9:16884167-16884168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200645521	chr9:16884168-16884169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397711343	chr9:16884178-16884179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201457455	chr9:16884179-16884180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142284288	chr9:16884196-16884197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147837829	chr9:16884206-16884207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141445908	chr9:16884210-16884211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550549800	chr9:16884216-16884217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568921622	chr9:16884227-16884228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7850402	chr9:16884293-16884294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368585931	chr9:16884321-16884322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573364732	chr9:16884338-16884339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187160826	chr9:16884359-16884360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147020339	chr9:16884361-16884362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147613493	chr9:16884372-16884373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574008795	chr9:16884391-16884392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544301519	chr9:16884439-16884440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565246351	chr9:16884496-16884497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562538340	chr9:16884528-16884529	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs117194944	chr9:16884553-16884554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545674322	chr9:16884571-16884572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs140849520	chr9:16884573-16884574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189439343	chr9:16884574-16884575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs10810657	chr9:16884586-16884587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113863780	chr9:16884589-16884590	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs528997684	chr9:16884598-16884599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs182038835	chr9:16884602-16884603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs185235306	chr9:16884603-16884604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150105727	chr9:16884651-16884652	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs367575089	chr9:16884654-16884655	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551378737	chr9:16884665-16884666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12683784	chr9:16884679-16884680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534516711	chr9:16884731-16884732	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138500051	chr9:16884745-16884746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs530253573	chr9:16884776-16884777	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs115860057	chr9:16884793-16884794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148812174	chr9:16884794-16884795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556271147	chr9:16884843-16884844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16872000-16885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16879600-16883800	Weak transcription	NHLF	lung
3	chr9:16883200-16884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:16883200-16885400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:16883200-16886200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:16883400-16884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:16883400-16885400	Enhancers	Osteobl	bone
8	chr9:16883400-16886000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:16883600-16885800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:16883600-16886600	Enhancers	Dnd41	blood
11	chr9:16883800-16885400	Enhancers	Fetal Lung	lung
12	chr9:16883800-16885400	Enhancers	Stomach Smooth Muscle	stomach
13	chr9:16883800-16885800	Enhancers	HSMM	muscle
14	chr9:16883800-16885800	Enhancers	NHDF-Ad	bronchial
15	chr9:16883800-16886000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:16883800-16886000	Enhancers	NHLF	lung
17	chr9:16883800-16886200	Enhancers	Primary hematopoietic stem cells	blood
18	chr9:16883800-16886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:16884000-16886200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:16884200-16884600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:16884200-16885600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr9:16884400-16884600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:16884400-16884800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:16884400-16885000	Enhancers	HSMMtube	muscle
25	chr9:16884400-16885200	Enhancers	Rectal Smooth Muscle	rectum
26	chr9:16884400-16885600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:16884400-16886000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:16884600-16884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:16884600-16885000	Enhancers	Adipose Nuclei	Adipose
30	chr9:16884600-16885400	Enhancers	Colon Smooth Muscle	Colon
31	chr9:16884800-16885000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:16884800-16885200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:16884800-16885200	Enhancers	Placenta	Placenta
34	chr9:16884800-16885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:16884800-16885600	Enhancers	Primary neutrophils fromperipheralblood	blood

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