Variant report

Variant	nsv613695
Chromosome Location	chr9:17273731-17348412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:
2	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BNC2-3	chr9:17322212-17322433	uc_253_-
2	lnc-SH3GL2-3	chr9:17322212-17322433	uc_253_+

Extended variants
information (count: 3621 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:3621 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3808795	chr9:17273731-17273732	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377753500	chr9:17273733-17273734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201504862	chr9:17273736-17273737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371187031	chr9:17273741-17273742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558226598	chr9:17273748-17273749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375017180	chr9:17273749-17273750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577506365	chr9:17273750-17273751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3808794	chr9:17273754-17273755	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371678003	chr9:17273767-17273768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200699994	chr9:17273772-17273773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372401675	chr9:17273785-17273786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61745833	chr9:17273794-17273795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372098194	chr9:17273799-17273800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202140760	chr9:17273800-17273801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369987628	chr9:17273832-17273833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563465502	chr9:17273856-17273857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576954284	chr9:17273860-17273861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12376938	chr9:17273878-17273879	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369815885	chr9:17273887-17273888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559658585	chr9:17273898-17273899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12379655	chr9:17273926-17273927	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs62558323	chr9:17273935-17273936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547355315	chr9:17273956-17273957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559622026	chr9:17274004-17274005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79434689	chr9:17274050-17274051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548356712	chr9:17274053-17274054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146968443	chr9:17274054-17274055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536738482	chr9:17274075-17274076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561458187	chr9:17274095-17274096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552196707	chr9:17274130-17274131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570328579	chr9:17274143-17274144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183828075	chr9:17274154-17274155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79353582	chr9:17274191-17274192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529010534	chr9:17274275-17274276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137865866	chr9:17274291-17274292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574762400	chr9:17274292-17274293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143424007	chr9:17274309-17274310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2779775	chr9:17274319-17274320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs13290659	chr9:17274331-17274332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs533052891	chr9:17274434-17274435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75081577	chr9:17274438-17274439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373036205	chr9:17274440-17274441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372969134	chr9:17274452-17274453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199882455	chr9:17274457-17274458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10635889	chr9:17274461-17274462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573139278	chr9:17274463-17274464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs622392	chr9:17274465-17274466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540588304	chr9:17274469-17274470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139419944	chr9:17274471-17274472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559706876	chr9:17274472-17274473	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
Medulloblastoma	21163964	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr9:17270000-17280600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:17271600-17275600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:17272600-17275800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:17272800-17274800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr9:17272800-17279800	Weak transcription	Fetal Lung	lung
10	chr9:17272800-17280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:17272800-17280800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:17272800-17293000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:17273200-17301800	Weak transcription	Dnd41	blood
14	chr9:17273600-17274200	Strong transcription	Colon Smooth Muscle	Colon
15	chr9:17274200-17278400	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:17274800-17276200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr9:17274800-17323200	Weak transcription	Aorta	Aorta
18	chr9:17275200-17279400	Weak transcription	Ovary	ovary
19	chr9:17275400-17281400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:17275600-17276400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr9:17275800-17276400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:17276000-17283400	Weak transcription	A549	lung
23	chr9:17276200-17279200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr9:17276400-17280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:17276400-17281200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr9:17276800-17284000	Weak transcription	Fetal Stomach	stomach
27	chr9:17277000-17293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:17277400-17284000	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:17278400-17281200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr9:17278400-17293600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr9:17278800-17284200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:17279200-17281200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr9:17279200-17281400	Weak transcription	Adipose Nuclei	Adipose
34	chr9:17279400-17280000	Enhancers	Ovary	ovary
35	chr9:17279400-17281000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:17279600-17282000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:17279600-17292800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:17279800-17280400	Enhancers	Rectal Smooth Muscle	rectum
39	chr9:17279800-17281400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:17279800-17282200	Strong transcription	Fetal Lung	lung
41	chr9:17280000-17281000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:17280000-17281800	Weak transcription	Ovary	ovary
43	chr9:17280400-17281200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr9:17280400-17281600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr9:17280400-17281800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:17280400-17281800	Strong transcription	Liver	Liver
47	chr9:17280600-17281000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:17280600-17281000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr9:17280600-17281000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr9:17280800-17281200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links