Variant report

Variant	esv3584581
Chromosome Location	chr9:10744135-10764097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566317530	chr9:10749003-10749004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114249831	chr9:10749018-10749019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547514696	chr9:10749021-10749022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570497272	chr9:10749029-10749030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77272809	chr9:10749036-10749037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556161014	chr9:10749070-10749071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187991665	chr9:10749077-10749078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535408927	chr9:10749082-10749083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369931482	chr9:10749189-10749190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192669733	chr9:10749198-10749199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59340678	chr9:10749236-10749237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148055820	chr9:10749241-10749242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141808330	chr9:10749252-10749253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78853925	chr9:10749278-10749279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578020402	chr9:10749281-10749282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10809183	chr9:10749312-10749313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534961151	chr9:10749314-10749315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563471010	chr9:10749320-10749321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529262959	chr9:10749345-10749346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184146417	chr9:10749380-10749381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373918476	chr9:10749397-10749398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115947104	chr9:10749427-10749428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560038647	chr9:10749441-10749442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10809184	chr9:10749446-10749447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551968431	chr9:10749469-10749470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188551559	chr9:10749511-10749512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140763249	chr9:10749528-10749529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201697435	chr9:10749543-10749544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150561279	chr9:10749569-10749570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35451091	chr9:10749571-10749572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7850815	chr9:10749592-10749593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569677863	chr9:10749600-10749601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185869437	chr9:10761807-10761808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560898958	chr9:10761831-10761832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530261637	chr9:10761868-10761869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572306175	chr9:10761869-10761870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568505150	chr9:10761873-10761874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560125533	chr9:10761891-10761892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142673573	chr9:10761898-10761899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398113237	chr9:10761905-10761906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532328170	chr9:10761930-10761931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538623573	chr9:10761955-10761956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117395190	chr9:10761963-10761964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12554421	chr9:10762022-10762023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76189892	chr9:10762042-10762043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559304198	chr9:10762063-10762064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531886978	chr9:10762064-10762065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374043417	chr9:10762101-10762102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548807997	chr9:10762106-10762107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568550581	chr9:10762113-10762114	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Cancer	20164920	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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10749000-10749600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:10761800-10762400	Enhancers	Fetal Brain Male	brain
3	chr9:10762200-10764800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:10762400-10764200	Weak transcription	Fetal Brain Male	brain
5	chr9:10762600-10763000	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links