Variant report

Variant	nsv613671
Chromosome Location	chr9:16792350-16804082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 537 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10119731	chr9:16792350-16792351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546347291	chr9:16792374-16792375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116009048	chr9:16792379-16792380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558810527	chr9:16792416-16792417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577485472	chr9:16792427-16792428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140789864	chr9:16792455-16792456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7849425	chr9:16792475-16792476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147771928	chr9:16792477-16792478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542340056	chr9:16792498-16792499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563797621	chr9:16792557-16792558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549540741	chr9:16792564-16792565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141172792	chr9:16792586-16792587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369210225	chr9:16792592-16792593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12553314	chr9:16792621-16792622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565147042	chr9:16792631-16792632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532310513	chr9:16792644-16792645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547530996	chr9:16792652-16792653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10125996	chr9:16792675-16792676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536495986	chr9:16792697-16792698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73649031	chr9:16792720-16792721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373759331	chr9:16792723-16792724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536615566	chr9:16792733-16792734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558152696	chr9:16792775-16792776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571083728	chr9:16792799-16792800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534996896	chr9:16792850-16792851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553674325	chr9:16792851-16792852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187941459	chr9:16792857-16792858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56201309	chr9:16792874-16792875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557454878	chr9:16792884-16792885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575828038	chr9:16792904-16792905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546174182	chr9:16792931-16792932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192414266	chr9:16792934-16792935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7863985	chr9:16792987-16792988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528530583	chr9:16792988-16792989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371123591	chr9:16793012-16793013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10120562	chr9:16793104-16793105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs372219739	chr9:16793178-16793179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12341168	chr9:16793202-16793203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368307802	chr9:16793239-16793240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183538215	chr9:16793255-16793256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547997627	chr9:16793259-16793260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57058581	chr9:16793263-16793264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530528325	chr9:16793271-16793272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551892296	chr9:16793320-16793321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570349455	chr9:16793340-16793341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12551144	chr9:16793390-16793391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534641488	chr9:16793397-16793398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553371696	chr9:16793419-16793420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12551152	chr9:16793448-16793449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536848075	chr9:16793465-16793466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16767600-16795400	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:16768000-16795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:16769800-16795400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:16773000-16795000	Weak transcription	HSMMtube	muscle
5	chr9:16784400-16802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:16785200-16794600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:16786000-16795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:16787000-16792400	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:16787000-16794600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:16787000-16795200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:16787200-16794800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:16787200-16797600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:16787600-16792600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:16787600-16795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:16788000-16795000	Weak transcription	Fetal Stomach	stomach
16	chr9:16788200-16794400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:16788200-16794600	Weak transcription	NHDF-Ad	bronchial
18	chr9:16788200-16794800	Weak transcription	HSMM	muscle
19	chr9:16788200-16795000	Weak transcription	NHLF	lung
20	chr9:16788200-16798000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:16789000-16794200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:16790400-16793800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:16791800-16792600	Enhancers	Ovary	ovary
24	chr9:16792000-16794600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:16792200-16792600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:16792200-16793600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:16792200-16793600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:16792200-16794000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:16792400-16796200	Enhancers	Colon Smooth Muscle	Colon
30	chr9:16792600-16793000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:16792600-16793400	Weak transcription	Ovary	ovary
32	chr9:16792600-16794800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:16793000-16794600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:16793400-16793600	Enhancers	Ovary	ovary
35	chr9:16793600-16794000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:16793600-16794000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:16793600-16794200	Weak transcription	Ovary	ovary
38	chr9:16793800-16794800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:16794000-16795000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:16794000-16795600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:16794000-16796600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:16794200-16794400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:16794200-16796200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr9:16794200-16796200	Enhancers	Ovary	ovary
45	chr9:16794200-16796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:16794400-16795000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:16794400-16795400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr9:16794600-16794800	Enhancers	NHDF-Ad	bronchial
49	chr9:16794600-16795400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:16794600-16795800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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