Variant report

Variant	esv2511744
Chromosome Location	chr11:104571905-104573625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181609330	chr11:104571945-104571946	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116411111	chr11:104571950-104571951	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186381553	chr11:104572041-104572042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141510464	chr11:104572048-104572049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564302970	chr11:104572050-104572051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1944525	chr11:104572072-104572073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568157111	chr11:104572113-104572114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549945289	chr11:104572127-104572128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1944526	chr11:104572128-104572129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375731897	chr11:104572139-104572140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528837260	chr11:104572181-104572182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550772113	chr11:104572217-104572218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562136341	chr11:104572247-104572248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188834490	chr11:104572270-104572271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568627399	chr11:104572273-104572274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536974026	chr11:104572288-104572289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555210735	chr11:104572294-104572295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570744639	chr11:104572335-104572336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181274293	chr11:104572388-104572389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373119544	chr11:104572393-104572394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368344198	chr11:104572401-104572402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570517585	chr11:104572414-104572415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576482859	chr11:104572440-104572441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535439207	chr11:104572517-104572518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555745387	chr11:104572561-104572562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572226171	chr11:104572646-104572647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541373465	chr11:104572652-104572653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564266221	chr11:104572655-104572656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185425024	chr11:104572772-104572773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2850817	chr11:104572797-104572798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs71467229	chr11:104572816-104572817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79035641	chr11:104572822-104572823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397795422	chr11:104572823-104572824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189790643	chr11:104572868-104572869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563196511	chr11:104572911-104572912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529001360	chr11:104572923-104572924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183949471	chr11:104572956-104572957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111265735	chr11:104572957-104572958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527962613	chr11:104572983-104572984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377504712	chr11:104573007-104573008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534738839	chr11:104573020-104573021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187268221	chr11:104573029-104573030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370726795	chr11:104573076-104573077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570707408	chr11:104573113-104573114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191598407	chr11:104573124-104573125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145424032	chr11:104573166-104573167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201197987	chr11:104573176-104573177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570016079	chr11:104573232-104573233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533945892	chr11:104573254-104573255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370381967	chr11:104573255-104573256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104566200-104575000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:104566400-104575000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:104570000-104572800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr11:104570000-104572800	Enhancers	Dnd41	blood
5	chr11:104570800-104572000	Enhancers	Small Intestine	intestine
6	chr11:104570800-104572000	Enhancers	NHDF-Ad	bronchial
7	chr11:104570800-104572200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:104570800-104572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:104570800-104572800	Enhancers	Primary T cells from cord blood	blood
10	chr11:104570800-104572800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:104571000-104572000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:104571000-104572000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:104571000-104572200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:104571000-104572200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:104571000-104572200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:104571000-104572200	Enhancers	NH-A	brain
17	chr11:104571000-104572400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:104571000-104572400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr11:104571200-104572000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:104571200-104572000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:104571200-104572000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:104571200-104572000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:104571200-104572000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:104571200-104572000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:104571200-104572000	Enhancers	Adipose Nuclei	Adipose
26	chr11:104571200-104572200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:104571200-104572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:104571200-104572600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr11:104571400-104572000	Enhancers	Fetal Muscle Leg	muscle
30	chr11:104571600-104572000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:104571600-104572000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:104571600-104572000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:104571600-104572000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:104571600-104572000	Enhancers	NHLF	lung
35	chr11:104571600-104572000	Enhancers	Osteobl	bone
36	chr11:104571600-104572200	Enhancers	HSMM	muscle
37	chr11:104571800-104576200	Weak transcription	Fetal Lung	lung
38	chr11:104572000-104573400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:104572000-104574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:104572000-104575200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr11:104572000-104575400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:104572000-104575400	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:104572000-104575600	Weak transcription	Small Intestine	intestine
44	chr11:104572000-104576200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:104572000-104576400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:104572000-104576600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:104572000-104576800	Weak transcription	NHLF	lung
48	chr11:104572200-104572600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:104572200-104574200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:104572200-104574200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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