Variant report

Variant	esv3430000
Chromosome Location	chr9:10392852-10395250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143340754	chr9:10392920-10392921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574063503	chr9:10392987-10392988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539866431	chr9:10393014-10393015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560143040	chr9:10393056-10393057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532448142	chr9:10393061-10393062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559586431	chr9:10393067-10393068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540359161	chr9:10393160-10393161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562698317	chr9:10393164-10393165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573224890	chr9:10393201-10393202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545154536	chr9:10393213-10393214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558361730	chr9:10393237-10393238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531562556	chr9:10393282-10393283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548683209	chr9:10393287-10393288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140870482	chr9:10393288-10393289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200121575	chr9:10393305-10393306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7028367	chr9:10393380-10393381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185522917	chr9:10393395-10393396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190338240	chr9:10393419-10393420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148361657	chr9:10393422-10393423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182913348	chr9:10393441-10393442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550236927	chr9:10393518-10393519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570215740	chr9:10393532-10393533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115354318	chr9:10393545-10393546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550676530	chr9:10393564-10393565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36063109	chr9:10393577-10393578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574199131	chr9:10393587-10393588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533506375	chr9:10393605-10393606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371833509	chr9:10393608-10393609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576808950	chr9:10393633-10393634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529678306	chr9:10393635-10393636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546054817	chr9:10393640-10393641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199987535	chr9:10393668-10393669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550023450	chr9:10393672-10393673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546640012	chr9:10393673-10393674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531255992	chr9:10393690-10393691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562670967	chr9:10393699-10393700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576269997	chr9:10393700-10393701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114854298	chr9:10393771-10393772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562115952	chr9:10393817-10393818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140555995	chr9:10393833-10393834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35090492	chr9:10393866-10393867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564485621	chr9:10393874-10393875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372151010	chr9:10393879-10393880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199737218	chr9:10393882-10393883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550415164	chr9:10393891-10393892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150311186	chr9:10393993-10393994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187630719	chr9:10393994-10393995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1323480	chr9:10394009-10394010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373648369	chr9:10394030-10394031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565975464	chr9:10394049-10394050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10387800-10395800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links