Variant report

Variant	nsv892666
Chromosome Location	chr9:17256043-17280616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1522 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1522 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62558298	chr9:17256075-17256076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555169324	chr9:17256089-17256090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35280499	chr9:17256096-17256097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555085664	chr9:17256097-17256098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139103625	chr9:17256098-17256099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79063995	chr9:17256123-17256124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543892216	chr9:17256138-17256139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7040666	chr9:17256156-17256157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144395281	chr9:17256166-17256167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545021330	chr9:17256179-17256180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560373501	chr9:17256220-17256221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570151712	chr9:17256236-17256237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527526370	chr9:17256314-17256315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75941638	chr9:17256317-17256318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567093534	chr9:17256341-17256342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114832217	chr9:17256353-17256354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549422275	chr9:17256375-17256376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570947636	chr9:17256390-17256391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576951990	chr9:17256413-17256414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534824232	chr9:17256418-17256419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11562139	chr9:17256436-17256437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148757216	chr9:17256459-17256460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114032264	chr9:17256461-17256462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536519621	chr9:17256468-17256469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199771041	chr9:17256482-17256483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200976637	chr9:17256485-17256486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574700593	chr9:17256535-17256536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180859183	chr9:17256536-17256537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541825892	chr9:17256539-17256540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535329738	chr9:17256541-17256542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573897019	chr9:17256559-17256560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200587639	chr9:17256560-17256561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142413946	chr9:17256565-17256566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186328273	chr9:17256598-17256599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368279420	chr9:17256607-17256608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370754834	chr9:17256660-17256661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563329874	chr9:17256681-17256682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370920185	chr9:17256692-17256693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575265468	chr9:17256704-17256705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368943867	chr9:17256718-17256719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545889756	chr9:17256722-17256723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151265225	chr9:17256730-17256731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564281097	chr9:17256746-17256747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374687337	chr9:17256766-17256767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367959766	chr9:17256815-17256816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371856807	chr9:17256818-17256819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188500351	chr9:17256847-17256848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528639018	chr9:17256873-17256874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113677158	chr9:17256899-17256900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571296728	chr9:17256901-17256902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17223600-17279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:17236400-17262000	Weak transcription	Ovary	ovary
3	chr9:17247400-17269000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:17256600-17256800	Weak transcription	Liver	Liver
5	chr9:17257800-17261800	Weak transcription	Liver	Liver
6	chr9:17259200-17262800	Weak transcription	Fetal Brain Male	brain
7	chr9:17260600-17269000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:17260800-17262200	Weak transcription	Left Ventricle	heart
9	chr9:17261600-17262200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr9:17261600-17262800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:17261600-17262800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:17261800-17262600	ZNF genes & repeats	Liver	Liver
13	chr9:17261800-17262800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr9:17262000-17262400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr9:17262000-17262800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr9:17262000-17262800	ZNF genes & repeats	Fetal Lung	lung
17	chr9:17262000-17262800	ZNF genes & repeats	Ovary	ovary
18	chr9:17262400-17262800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:17262400-17262800	ZNF genes & repeats	Left Ventricle	heart
20	chr9:17262400-17263000	ZNF genes & repeats	Dnd41	blood
21	chr9:17262600-17263400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:17262600-17280400	Weak transcription	Liver	Liver
23	chr9:17262800-17263000	Active TSS	Fetal Brain Male	brain
24	chr9:17262800-17264600	Weak transcription	Fetal Lung	lung
25	chr9:17262800-17339800	Weak transcription	Left Ventricle	heart
26	chr9:17263000-17263400	Weak transcription	Dnd41	blood
27	chr9:17268000-17268200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:17268200-17269200	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr9:17268400-17269000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr9:17268400-17269000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:17268400-17269000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr9:17268400-17269200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:17268400-17269200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr9:17268400-17269400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr9:17268600-17269200	Active TSS	HepG2	liver
36	chr9:17268600-17280000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:17268800-17269200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:17268800-17269400	Enhancers	A549	lung
39	chr9:17269000-17269200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
40	chr9:17269000-17269200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr9:17269000-17269200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:17269200-17269400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr9:17269200-17269400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr9:17269200-17269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:17269400-17269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:17269400-17270000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr9:17269600-17272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr9:17270000-17280600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:17271600-17273200	Enhancers	Dnd41	blood
50	chr9:17271600-17275600	Weak transcription	Primary monocytes fromperipheralblood	blood

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