Variant report

Variant	nsv892667
Chromosome Location	chr9:17269437-17296630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1446 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1446 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10962988	chr9:17269437-17269438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573348359	chr9:17269446-17269447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575501219	chr9:17269510-17269511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375920965	chr9:17269524-17269525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539667268	chr9:17269540-17269541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540849158	chr9:17269555-17269556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188273557	chr9:17269603-17269604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540368468	chr9:17269609-17269610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35998538	chr9:17269629-17269630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs372639711	chr9:17269653-17269654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2104914	chr9:17269657-17269658	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544581471	chr9:17269718-17269719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544949564	chr9:17269720-17269721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74737511	chr9:17269722-17269723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75161660	chr9:17269733-17269734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552407309	chr9:17269758-17269759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530462935	chr9:17269820-17269821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149131593	chr9:17269822-17269823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528240349	chr9:17269827-17269828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2095145	chr9:17269857-17269858	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528755285	chr9:17269861-17269862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568084276	chr9:17269876-17269877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117412041	chr9:17269885-17269886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115415027	chr9:17269889-17269890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181148276	chr9:17269922-17269923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559102032	chr9:17269963-17269964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539704002	chr9:17269966-17269967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185540166	chr9:17269970-17269971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188746700	chr9:17269974-17269975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534336235	chr9:17270004-17270005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13286311	chr9:17270025-17270026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs574152364	chr9:17270057-17270058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544618243	chr9:17270067-17270068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143228357	chr9:17270096-17270097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548604047	chr9:17270114-17270115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575647225	chr9:17270164-17270165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10810742	chr9:17270172-17270173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564336618	chr9:17270192-17270193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528260454	chr9:17270201-17270202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375685726	chr9:17270216-17270217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540389767	chr9:17270224-17270225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546404774	chr9:17270428-17270429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201588726	chr9:17270467-17270468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561651512	chr9:17270478-17270479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567949696	chr9:17270485-17270486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138826908	chr9:17270491-17270492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140399095	chr9:17270497-17270498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376962740	chr9:17270520-17270521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145601525	chr9:17270521-17270522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551771089	chr9:17270523-17270524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17223600-17279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:17262600-17280400	Weak transcription	Liver	Liver
3	chr9:17262800-17339800	Weak transcription	Left Ventricle	heart
4	chr9:17268600-17280000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:17269400-17269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:17269400-17270000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:17269600-17272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:17270000-17280600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:17271600-17273200	Enhancers	Dnd41	blood
10	chr9:17271600-17275600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr9:17272400-17272600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr9:17272400-17272800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:17272400-17272800	Enhancers	Fetal Lung	lung
14	chr9:17272400-17272800	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:17272400-17273000	Enhancers	Colon Smooth Muscle	Colon
16	chr9:17272600-17272800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:17272600-17272800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr9:17272600-17272800	Enhancers	Stomach Smooth Muscle	stomach
19	chr9:17272600-17275800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:17272800-17274800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr9:17272800-17279800	Weak transcription	Fetal Lung	lung
22	chr9:17272800-17280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:17272800-17280800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:17272800-17293000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:17273000-17273600	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:17273200-17301800	Weak transcription	Dnd41	blood
27	chr9:17273600-17274200	Strong transcription	Colon Smooth Muscle	Colon
28	chr9:17274200-17278400	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:17274800-17276200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr9:17274800-17323200	Weak transcription	Aorta	Aorta
31	chr9:17275200-17279400	Weak transcription	Ovary	ovary
32	chr9:17275400-17281400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:17275600-17276400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr9:17275800-17276400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:17276000-17283400	Weak transcription	A549	lung
36	chr9:17276200-17279200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr9:17276400-17280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:17276400-17281200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr9:17276800-17284000	Weak transcription	Fetal Stomach	stomach
40	chr9:17277000-17293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:17277400-17284000	Weak transcription	Fetal Muscle Leg	muscle
42	chr9:17278400-17281200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr9:17278400-17293600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr9:17278800-17284200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr9:17279200-17281200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr9:17279200-17281400	Weak transcription	Adipose Nuclei	Adipose
47	chr9:17279400-17280000	Enhancers	Ovary	ovary
48	chr9:17279400-17281000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:17279600-17282000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:17279600-17292800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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