Variant report

Variant	nsv613677
Chromosome Location	chr9:16882888-16884791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35972588	chr9:16882888-16882889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558182866	chr9:16882889-16882890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs398010382	chr9:16882899-16882900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4644350	chr9:16882916-16882917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552885451	chr9:16882928-16882929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181106650	chr9:16882976-16882977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542498272	chr9:16882982-16882983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557718047	chr9:16883006-16883007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184843438	chr9:16883007-16883008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565484960	chr9:16883026-16883027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577346076	chr9:16883043-16883044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142103429	chr9:16883093-16883094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564680995	chr9:16883094-16883095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35753143	chr9:16883182-16883183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397893894	chr9:16883203-16883204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536448833	chr9:16883216-16883217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528540946	chr9:16883230-16883231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555191251	chr9:16883257-16883258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570240857	chr9:16883271-16883272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190084638	chr9:16883295-16883296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562207203	chr9:16883297-16883298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529305077	chr9:16883298-16883299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10962659	chr9:16883318-16883319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569585961	chr9:16883330-16883331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555715711	chr9:16883390-16883391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146361904	chr9:16883413-16883414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374213513	chr9:16883419-16883420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570554704	chr9:16883438-16883439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368928840	chr9:16883454-16883455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181734236	chr9:16883465-16883466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552831271	chr9:16883497-16883498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139383630	chr9:16883520-16883521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535415766	chr9:16883542-16883543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10756825	chr9:16883563-16883564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs55913845	chr9:16883602-16883603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs150004195	chr9:16883613-16883614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558382361	chr9:16883655-16883656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373858421	chr9:16883694-16883695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573400028	chr9:16883695-16883696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540707379	chr9:16883702-16883703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116158422	chr9:16883781-16883782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs5896716	chr9:16883802-16883803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397894334	chr9:16883804-16883805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76282388	chr9:16883828-16883829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544166227	chr9:16883918-16883919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376212214	chr9:16883936-16883937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148707862	chr9:16883968-16883969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530669073	chr9:16883980-16883981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552098159	chr9:16883985-16883986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542451827	chr9:16883994-16883995	Weak transcription Enhancers	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:36 , 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	chr9:16874000-16883400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:16879200-16883600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:16879600-16883800	Weak transcription	NHLF	lung
5	chr9:16880000-16883600	Weak transcription	Dnd41	blood
6	chr9:16880400-16883200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:16881000-16883200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:16881000-16883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:16883200-16884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:16883200-16885400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:16883200-16886200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:16883400-16884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:16883400-16885400	Enhancers	Osteobl	bone
14	chr9:16883400-16886000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:16883600-16885800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:16883600-16886600	Enhancers	Dnd41	blood
17	chr9:16883800-16885400	Enhancers	Fetal Lung	lung
18	chr9:16883800-16885400	Enhancers	Stomach Smooth Muscle	stomach
19	chr9:16883800-16885800	Enhancers	HSMM	muscle
20	chr9:16883800-16885800	Enhancers	NHDF-Ad	bronchial
21	chr9:16883800-16886000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:16883800-16886000	Enhancers	NHLF	lung
23	chr9:16883800-16886200	Enhancers	Primary hematopoietic stem cells	blood
24	chr9:16883800-16886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr9:16884000-16886200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr9:16884200-16884600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:16884200-16885600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr9:16884400-16884600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:16884400-16884800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:16884400-16885000	Enhancers	HSMMtube	muscle
31	chr9:16884400-16885200	Enhancers	Rectal Smooth Muscle	rectum
32	chr9:16884400-16885600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr9:16884400-16886000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:16884600-16884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:16884600-16885000	Enhancers	Adipose Nuclei	Adipose
36	chr9:16884600-16885400	Enhancers	Colon Smooth Muscle	Colon

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