Variant report

Variant	esv3373935
Chromosome Location	chr11:103954492-103956790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186410195	chr11:103954521-103954522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145707957	chr11:103954557-103954558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149017693	chr11:103954631-103954632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547046381	chr11:103954653-103954654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566737317	chr11:103954661-103954662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190216997	chr11:103954677-103954678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558703468	chr11:103954680-103954681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575881615	chr11:103954681-103954682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs207472283	chr11:103954711-103954712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143796556	chr11:103954763-103954764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2515079	chr11:103954765-103954766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549363603	chr11:103954790-103954791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540746729	chr11:103954800-103954801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138415347	chr11:103954839-103954840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180783283	chr11:103954849-103954850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185242335	chr11:103954889-103954890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562665157	chr11:103954900-103954901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141334728	chr11:103954918-103954919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75816102	chr11:103954954-103954955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541990724	chr11:103955041-103955042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561903993	chr11:103955110-103955111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538014771	chr11:103955137-103955138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561535067	chr11:103955141-103955142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190888857	chr11:103955163-103955164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375989656	chr11:103955173-103955174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550258295	chr11:103955299-103955300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs361274	chr11:103955312-103955313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570239543	chr11:103955322-103955323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145363179	chr11:103955344-103955345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137953777	chr11:103955364-103955365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs361275	chr11:103955442-103955443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183873009	chr11:103955453-103955454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4468317	chr11:103955468-103955469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs656426	chr11:103955480-103955481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374724807	chr11:103955512-103955513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569802630	chr11:103955515-103955516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555211442	chr11:103955552-103955553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568384775	chr11:103955619-103955620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534213806	chr11:103955660-103955661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3050619	chr11:103955674-103955675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143788429	chr11:103955675-103955676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541475577	chr11:103955696-103955697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187219543	chr11:103955711-103955712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67420841	chr11:103955723-103955724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191714295	chr11:103955751-103955752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546319064	chr11:103955764-103955765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542143264	chr11:103955770-103955771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545949809	chr11:103955865-103955866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201528400	chr11:103955882-103955883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75053069	chr11:103955886-103955887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Prostate cancer	18632612	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103945000-103961600	Weak transcription	Left Ventricle	heart
2	chr11:103945000-103964400	Weak transcription	Aorta	Aorta
3	chr11:103945000-103965400	Weak transcription	Ovary	ovary
4	chr11:103955000-103955200	Enhancers	Small Intestine	intestine
5	chr11:103956600-103957800	Enhancers	Fetal Lung	lung
6	chr11:103956600-103964400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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