Variant report

Variant	esv3385115
Chromosome Location	chr9:24386001-24414285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563732620	chr9:24390820-24390821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371702126	chr9:24390841-24390842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190343178	chr9:24390849-24390850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548741712	chr9:24390872-24390873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570288620	chr9:24390878-24390879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530550581	chr9:24390910-24390911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181543022	chr9:24390933-24390934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568248644	chr9:24390936-24390937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537378029	chr9:24390944-24390945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556679812	chr9:24390948-24390949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200071424	chr9:24390965-24390966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570468378	chr9:24390972-24390973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373761276	chr9:24390984-24390985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143184094	chr9:24391004-24391005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553057002	chr9:24391024-24391025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537766088	chr9:24391049-24391050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572998355	chr9:24391057-24391058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541604474	chr9:24391058-24391059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184392749	chr9:24391120-24391121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373990381	chr9:24391132-24391133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368054514	chr9:24391140-24391141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371855792	chr9:24391141-24391142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375250442	chr9:24391142-24391143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368546534	chr9:24391145-24391146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372737328	chr9:24391147-24391148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377282158	chr9:24391154-24391155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368787840	chr9:24391157-24391158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77707159	chr9:24391220-24391221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188753591	chr9:24391252-24391253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368361002	chr9:24391274-24391275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34438710	chr9:24391283-24391284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563527028	chr9:24391287-24391288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117385738	chr9:24391298-24391299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181077134	chr9:24391410-24391411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186257342	chr9:24391465-24391466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111460887	chr9:24391469-24391470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138533086	chr9:24391474-24391475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568291420	chr9:24391477-24391478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530704755	chr9:24391480-24391481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553548671	chr9:24391483-24391484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7035410	chr9:24391504-24391505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115621233	chr9:24391505-24391506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79245878	chr9:24391527-24391528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74945270	chr9:24391528-24391529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150719343	chr9:24391539-24391540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374506076	chr9:24391571-24391572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553020197	chr9:24391574-24391575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566559034	chr9:24391581-24391582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535574371	chr9:24391612-24391613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554863866	chr9:24391697-24391698	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

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
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
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
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
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24390800-24391800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:24391000-24391400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:24398400-24398800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:24398400-24399200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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