Variant report

Variant	nsv518608
Chromosome Location	chr9:16800341-16804082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2026804	chr9:16800341-16800342	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532567968	chr9:16800347-16800348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151127697	chr9:16800348-16800349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201009903	chr9:16800373-16800374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376002856	chr9:16800391-16800392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541999097	chr9:16800447-16800448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200706442	chr9:16800450-16800451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567297995	chr9:16800465-16800466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12338608	chr9:16800470-16800471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537181960	chr9:16800486-16800487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182499848	chr9:16800537-16800538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113672074	chr9:16800554-16800555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192721835	chr9:16800555-16800556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201836166	chr9:16800557-16800558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540689632	chr9:16800558-16800559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533871910	chr9:16800561-16800562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555530485	chr9:16800567-16800568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573666429	chr9:16800568-16800569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543882691	chr9:16800578-16800579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563171530	chr9:16800582-16800583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141341752	chr9:16800583-16800584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545722362	chr9:16800638-16800639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560307907	chr9:16800641-16800642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567673233	chr9:16800652-16800653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527906872	chr9:16800682-16800683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549048458	chr9:16800703-16800704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561061880	chr9:16800731-16800732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531701648	chr9:16800763-16800764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2026805	chr9:16800789-16800790	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184145730	chr9:16800814-16800815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372300808	chr9:16800850-16800851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189129853	chr9:16800856-16800857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551747110	chr9:16800879-16800880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200850914	chr9:16800881-16800882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193051318	chr9:16800945-16800946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534014317	chr9:16800967-16800968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555469821	chr9:16800993-16800994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573677394	chr9:16801043-16801044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537804729	chr9:16801060-16801061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184656206	chr9:16801088-16801089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145124101	chr9:16801110-16801111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10962609	chr9:16801120-16801121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4433240	chr9:16801130-16801131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542833640	chr9:16801136-16801137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146808810	chr9:16801230-16801231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561001074	chr9:16801275-16801276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376331081	chr9:16801297-16801298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140620516	chr9:16801305-16801306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527602278	chr9:16801336-16801337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189024780	chr9:16801347-16801348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16784400-16802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:16796200-16801400	Weak transcription	Fetal Stomach	stomach
3	chr9:16796200-16801400	Weak transcription	Ovary	ovary
4	chr9:16796200-16801400	Weak transcription	NHLF	lung
5	chr9:16796200-16803800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:16796200-16810400	Weak transcription	HSMM	muscle
7	chr9:16796200-16813400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:16796200-16816800	Weak transcription	HSMMtube	muscle
9	chr9:16796400-16802200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:16796400-16824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:16796600-16802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:16796600-16809000	Weak transcription	Osteobl	bone
13	chr9:16797600-16802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:16798000-16801400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:16798000-16802000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:16798000-16809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:16798200-16802200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:16798200-16802200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:16798800-16800400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:16799000-16800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr9:16799200-16800800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:16799200-16801000	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:16799200-16801800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:16799200-16802000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:16799200-16802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:16799200-16813200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:16799800-16801600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:16800200-16800600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:16800200-16800800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:16800200-16801000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:16800400-16800800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:16800600-16801000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:16800600-16801800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:16800800-16801200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:16800800-16801800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:16800800-16801800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:16801000-16802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:16801000-16803200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:16801000-16803400	Enhancers	Colon Smooth Muscle	Colon
40	chr9:16801200-16802200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:16801400-16801600	Enhancers	Ovary	ovary
42	chr9:16801400-16801600	Enhancers	NHLF	lung
43	chr9:16801400-16803000	Enhancers	Fetal Stomach	stomach
44	chr9:16801400-16805000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr9:16801600-16802000	Enhancers	Fetal Lung	lung
46	chr9:16801600-16802000	Weak transcription	Ovary	ovary
47	chr9:16801600-16802000	Weak transcription	NHLF	lung
48	chr9:16801600-16805400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:16801800-16802000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:16801800-16802600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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