Variant report

Variant	esv2597532
Chromosome Location	chr11:104009428-104011062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550284221	chr11:104009434-104009435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186345306	chr11:104009441-104009442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535950771	chr11:104009462-104009463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76733524	chr11:104009478-104009479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572351339	chr11:104009484-104009485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73603994	chr11:104009486-104009487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74802391	chr11:104009493-104009494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578172748	chr11:104009496-104009497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544068301	chr11:104009507-104009508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1969076	chr11:104009550-104009551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113507756	chr11:104009568-104009569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs361269	chr11:104009590-104009591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543145194	chr11:104009644-104009645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12293817	chr11:104009647-104009648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528337557	chr11:104009651-104009652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147807727	chr11:104009653-104009654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191485442	chr11:104009678-104009679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574518643	chr11:104009682-104009683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34289933	chr11:104009685-104009686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543630583	chr11:104009705-104009706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530736817	chr11:104009709-104009710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374408605	chr11:104009710-104009711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371006923	chr11:104009738-104009739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17102076	chr11:104009809-104009810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199867917	chr11:104009867-104009868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566925506	chr11:104009868-104009869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374355741	chr11:104009869-104009870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398115769	chr11:104009871-104009872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535841199	chr11:104009883-104009884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545418737	chr11:104009901-104009902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1532673	chr11:104009965-104009966	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs566212617	chr11:104009969-104009970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527696375	chr11:104009987-104009988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79468676	chr11:104009992-104009993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386757046	chr11:104010050-104010051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113991371	chr11:104010051-104010052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs361268	chr11:104010052-104010053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs537351482	chr11:104010063-104010064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7110257	chr11:104010065-104010066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112677442	chr11:104010068-104010069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35186384	chr11:104010118-104010119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543035697	chr11:104010178-104010179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559922145	chr11:104010215-104010216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193002769	chr11:104010225-104010226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12363283	chr11:104010228-104010229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182686656	chr11:104010276-104010277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76934625	chr11:104010283-104010284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530684080	chr11:104010289-104010290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567772827	chr11:104010292-104010293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558219954	chr11:104010318-104010319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103997000-104013400	Weak transcription	Ovary	ovary
2	chr11:104005800-104019400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:104005800-104031000	Weak transcription	Aorta	Aorta
4	chr11:104006200-104013400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:104008000-104017400	Weak transcription	Fetal Heart	heart

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