Variant report

Variant	nsv526709
Chromosome Location	chr11:103936469-103946161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs361262	chr11:103936469-103936470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142533577	chr11:103936483-103936484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187085143	chr11:103936486-103936487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191893459	chr11:103936491-103936492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537196882	chr11:103936495-103936496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78016309	chr11:103936506-103936507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573511079	chr11:103936527-103936528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542379264	chr11:103936556-103936557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs361263	chr11:103936584-103936585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572828447	chr11:103936585-103936586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545270667	chr11:103936590-103936591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535809888	chr11:103936592-103936593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs361264	chr11:103936599-103936600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530521111	chr11:103936625-103936626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182269566	chr11:103936732-103936733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560934158	chr11:103936781-103936782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150924859	chr11:103936861-103936862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140900257	chr11:103936891-103936892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566262788	chr11:103936901-103936902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528825066	chr11:103936946-103936947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552049159	chr11:103936951-103936952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186604051	chr11:103937053-103937054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112645986	chr11:103937064-103937065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115350616	chr11:103937077-103937078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs361265	chr11:103937098-103937099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369522680	chr11:103937115-103937116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578113956	chr11:103937120-103937121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559759585	chr11:103937121-103937122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1483501	chr11:103937128-103937129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192725347	chr11:103937168-103937169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552783172	chr11:103937270-103937271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577826913	chr11:103937275-103937276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185419397	chr11:103937404-103937405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545019375	chr11:103937490-103937491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558767507	chr11:103937523-103937524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575138233	chr11:103937525-103937526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548468691	chr11:103937538-103937539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544169150	chr11:103937575-103937576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144845298	chr11:103937586-103937587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7943604	chr11:103937600-103937601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190722573	chr11:103937668-103937669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560036445	chr11:103937705-103937706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528639893	chr11:103937724-103937725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551797593	chr11:103937730-103937731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138692569	chr11:103937735-103937736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530832333	chr11:103937754-103937755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550589637	chr11:103937759-103937760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562446094	chr11:103937784-103937785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140315728	chr11:103937805-103937806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115990298	chr11:103937823-103937824	Enhancers 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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103928400-103939400	Weak transcription	Pancreas	Pancrea
2	chr11:103934200-103937000	Weak transcription	Adipose Nuclei	Adipose
3	chr11:103934200-103937400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:103934200-103937600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:103937000-103937800	Enhancers	Adipose Nuclei	Adipose
6	chr11:103937400-103937800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:103937600-103938000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:103943800-103947000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:103944200-103945400	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:103944200-103946600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:103944200-103946800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:103944200-103947600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:103944400-103944800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr11:103944400-103945000	Enhancers	Aorta	Aorta
15	chr11:103944400-103945000	Enhancers	A549	lung
16	chr11:103944400-103945400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:103944400-103945400	Enhancers	Fetal Heart	heart
18	chr11:103944400-103945800	Enhancers	HMEC	breast
19	chr11:103944400-103946400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr11:103944400-103948200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:103944400-103951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:103944600-103945000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr11:103944600-103945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:103944600-103945200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr11:103944600-103945400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:103944600-103945400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:103944600-103945400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:103944600-103945400	Enhancers	NHEK	skin
29	chr11:103944600-103945600	Enhancers	Right Ventricle	heart
30	chr11:103944800-103945000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:103944800-103945000	Enhancers	Left Ventricle	heart
32	chr11:103944800-103945000	Enhancers	Ovary	ovary
33	chr11:103944800-103945200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:103944800-103945200	Enhancers	Fetal Brain Male	brain
35	chr11:103944800-103945400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:103944800-103945600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr11:103944800-103945600	Enhancers	Primary B cells from peripheral blood	blood
38	chr11:103944800-103945600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:103944800-103946000	Enhancers	Fetal Brain Female	brain
40	chr11:103944800-103948600	Weak transcription	Pancreas	Pancrea
41	chr11:103945000-103945400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:103945000-103945400	Enhancers	Primary B cells from cord blood	blood
43	chr11:103945000-103945600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:103945000-103946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:103945000-103961600	Weak transcription	Left Ventricle	heart
46	chr11:103945000-103964400	Weak transcription	Aorta	Aorta
47	chr11:103945000-103965400	Weak transcription	Ovary	ovary
48	chr11:103945400-103945800	Weak transcription	Primary B cells from cord blood	blood
49	chr11:103945400-103946400	Weak transcription	NHEK	skin
50	chr11:103945400-103946800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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