Variant report

Variant	nsv1030598
Chromosome Location	chr9:16680138-16696510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 750 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10738445	chr9:16680138-16680139	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116930535	chr9:16680170-16680171	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142142422	chr9:16680171-16680172	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190958700	chr9:16680179-16680180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558066656	chr9:16680180-16680181	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375436383	chr9:16680213-16680214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534040706	chr9:16680214-16680215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553804578	chr9:16680220-16680221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577265745	chr9:16680222-16680223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369682327	chr9:16680231-16680232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558034239	chr9:16680243-16680244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145836559	chr9:16680259-16680260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200945024	chr9:16680291-16680292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540549328	chr9:16680295-16680296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10962539	chr9:16680296-16680297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574073430	chr9:16680360-16680361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544577353	chr9:16680361-16680362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138300734	chr9:16680405-16680406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73417977	chr9:16680412-16680413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545995958	chr9:16680471-16680472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370833130	chr9:16680572-16680573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577476269	chr9:16680573-16680574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564112423	chr9:16680584-16680585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528417331	chr9:16680643-16680644	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546577402	chr9:16680653-16680654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537286320	chr9:16680694-16680695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557278362	chr9:16680703-16680704	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73645844	chr9:16680751-16680752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528858481	chr9:16680779-16680780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550131114	chr9:16680786-16680787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187714051	chr9:16680854-16680855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539142864	chr9:16680856-16680857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs17813471	chr9:16680901-16680902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79493783	chr9:16680964-16680965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76655031	chr9:16681021-16681022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369303533	chr9:16681104-16681105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190673574	chr9:16681111-16681112	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs78070156	chr9:16681156-16681157	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574338068	chr9:16681163-16681164	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573190470	chr9:16681203-16681204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs115942075	chr9:16681204-16681205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545398400	chr9:16681269-16681270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs578076374	chr9:16681289-16681290	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182888948	chr9:16681291-16681292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564355202	chr9:16681327-16681328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs188493049	chr9:16681342-16681343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs373198369	chr9:16681352-16681353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539990305	chr9:16681356-16681357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561667587	chr9:16681385-16681386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112338164	chr9:16681386-16681387	Weak transcription Enhancers Flanking Active TSS	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16657600-16681400	Weak transcription	Psoas Muscle	Psoas
2	chr9:16665000-16704400	Weak transcription	Aorta	Aorta
3	chr9:16667200-16681000	Weak transcription	Fetal Stomach	stomach
4	chr9:16669000-16681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:16671200-16681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:16672000-16680800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:16672000-16681400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:16674200-16681800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:16675200-16682400	Weak transcription	A549	lung
10	chr9:16678800-16680200	Enhancers	Colon Smooth Muscle	Colon
11	chr9:16679200-16681200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:16679400-16680200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:16679400-16681600	Enhancers	HSMM	muscle
14	chr9:16679400-16681800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:16679600-16680200	Strong transcription	HUVEC	blood vessel
16	chr9:16679600-16681800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:16679600-16682000	Enhancers	Fetal Lung	lung
18	chr9:16679600-16683400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:16679600-16693600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr9:16679800-16680200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:16679800-16680600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:16679800-16681000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:16679800-16681000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:16679800-16681000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:16679800-16681400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:16679800-16689400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:16679800-16704000	Weak transcription	HSMMtube	muscle
28	chr9:16680000-16680200	Enhancers	NHLF	lung
29	chr9:16680000-16680600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:16680000-16680800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:16680000-16681000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:16680000-16681000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:16680000-16681000	Weak transcription	Ovary	ovary
34	chr9:16680000-16681000	Enhancers	NHDF-Ad	bronchial
35	chr9:16680000-16681200	Weak transcription	NH-A	brain
36	chr9:16680000-16681400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:16680000-16681400	Weak transcription	Osteobl	bone
38	chr9:16680000-16681600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:16680000-16681800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr9:16680000-16688800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr9:16680000-16688800	Weak transcription	Fetal Muscle Leg	muscle
42	chr9:16680000-16704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:16680200-16680600	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:16680200-16681000	Weak transcription	HUVEC	blood vessel
45	chr9:16680200-16681000	Weak transcription	NHLF	lung
46	chr9:16680200-16681200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr9:16680600-16681800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:16680600-16681800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:16680600-16684200	Enhancers	Colon Smooth Muscle	Colon
50	chr9:16680800-16682000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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