Variant report

Variant	esv3482082
Chromosome Location	chr9:21791321-21792676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561431953	chr9:21791353-21791354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375647253	chr9:21791431-21791432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112431763	chr9:21791456-21791457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58495931	chr9:21791467-21791468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571213754	chr9:21791491-21791492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548019996	chr9:21791527-21791528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567909023	chr9:21791529-21791530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12346623	chr9:21791540-21791541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537379622	chr9:21791552-21791553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550584059	chr9:21791622-21791623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373336985	chr9:21791649-21791650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377500550	chr9:21791666-21791667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571797085	chr9:21791675-21791676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61258965	chr9:21791710-21791711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572935507	chr9:21791718-21791719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544231264	chr9:21791719-21791720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535535863	chr9:21791779-21791780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373980951	chr9:21791795-21791796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575729385	chr9:21791797-21791798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544926109	chr9:21791854-21791855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187709149	chr9:21791874-21791875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577989407	chr9:21791875-21791876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371326761	chr9:21791917-21791918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs118051306	chr9:21791947-21791948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148707699	chr9:21791978-21791979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192593158	chr9:21791992-21791993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549042264	chr9:21791998-21791999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561580672	chr9:21792003-21792004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142283601	chr9:21792023-21792024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550872850	chr9:21792038-21792039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570608673	chr9:21792058-21792059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532950697	chr9:21792060-21792061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533600736	chr9:21792100-21792101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566472698	chr9:21792120-21792121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541909933	chr9:21792136-21792137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560304158	chr9:21792146-21792147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555488156	chr9:21792160-21792161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533554075	chr9:21792180-21792181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74810844	chr9:21792186-21792187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368902026	chr9:21792201-21792202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569453180	chr9:21792215-21792216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111704142	chr9:21792253-21792254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12002238	chr9:21792258-21792259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184410941	chr9:21792280-21792281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376645017	chr9:21792288-21792289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188327819	chr9:21792297-21792298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553775796	chr9:21792316-21792317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573681726	chr9:21792327-21792328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147890911	chr9:21792347-21792348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78606038	chr9:21792375-21792376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:159)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
Chronic myeloid leukemia	21384125	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Multiple myeloma	17550852	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21790200-21795800	Weak transcription	A549	lung
2	chr9:21790200-21801000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:21790200-21801200	Weak transcription	NHEK	skin

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