Variant report

Variant	esv10748
Chromosome Location	chr11:93636188-93640796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs10765639	chr11:93636194-93636195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532109181	chr11:93636259-93636260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536884047	chr11:93636274-93636275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189719881	chr11:93636275-93636276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574931056	chr11:93636284-93636285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112197370	chr11:93636326-93636327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537786580	chr11:93636349-93636350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182335987	chr11:93636367-93636368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373089018	chr11:93636388-93636389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548817640	chr11:93636393-93636394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377286612	chr11:93636395-93636396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10765640	chr11:93636462-93636463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566993416	chr11:93636463-93636464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534003592	chr11:93636472-93636473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200893402	chr11:93636501-93636502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188872602	chr11:93636562-93636563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546394371	chr11:93636584-93636585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558994876	chr11:93636589-93636590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577200266	chr11:93636590-93636591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544593239	chr11:93636603-93636604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112187223	chr11:93636652-93636653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556482847	chr11:93636657-93636658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550669887	chr11:93636706-93636707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73561122	chr11:93636721-93636722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542038979	chr11:93636722-93636723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11020582	chr11:93636740-93636741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376194380	chr11:93636834-93636835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527868426	chr11:93636845-93636846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10831136	chr11:93636860-93636861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10831137	chr11:93636912-93636913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532050245	chr11:93636934-93636935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12292579	chr11:93636956-93636957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183628469	chr11:93636972-93636973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77677028	chr11:93636999-93637000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548421900	chr11:93637012-93637013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566585790	chr11:93637050-93637051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533967887	chr11:93637086-93637087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558834998	chr11:93637127-93637128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146548760	chr11:93637134-93637135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141177643	chr11:93637137-93637138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556093277	chr11:93637139-93637140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112091124	chr11:93637151-93637152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574807157	chr11:93637159-93637160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7942444	chr11:93637160-93637161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143503031	chr11:93637177-93637178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8181567	chr11:93637209-93637210	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546369269	chr11:93637225-93637226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145603557	chr11:93637234-93637235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576824095	chr11:93637264-93637265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544248363	chr11:93637281-93637282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93634400-93638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:93635800-93636400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:93636000-93636400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:93636000-93636400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:93636000-93636400	Enhancers	NHEK	skin
6	chr11:93636200-93637000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:93636400-93638400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:93636400-93638400	Weak transcription	NHEK	skin
9	chr11:93636400-93639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:93636800-93637000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:93637000-93637400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:93637000-93637400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:93637000-93637600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:93637000-93638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:93637400-93641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:93637600-93637800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:93638200-93639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:93638400-93638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:93638400-93639000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:93638400-93639000	Enhancers	HepG2	liver
21	chr11:93638400-93639000	Enhancers	NHEK	skin
22	chr11:93638400-93639000	Enhancers	Osteobl	bone
23	chr11:93638400-93639200	Enhancers	Placenta	Placenta
24	chr11:93638400-93639200	Enhancers	HSMM	muscle
25	chr11:93638400-93640200	Enhancers	NH-A	brain
26	chr11:93638400-93640400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:93638400-93640600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:93638400-93643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:93638600-93639000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:93638600-93639200	Enhancers	HSMMtube	muscle
31	chr11:93638600-93640200	Enhancers	NHDF-Ad	bronchial
32	chr11:93638600-93642600	Enhancers	HMEC	breast
33	chr11:93638800-93639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:93639000-93641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:93639000-93641200	Weak transcription	NHEK	skin
36	chr11:93639000-93641400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:93639000-93641400	Weak transcription	Osteobl	bone
38	chr11:93639200-93640600	Weak transcription	HSMM	muscle
39	chr11:93639200-93641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:93639200-93641200	Weak transcription	Placenta	Placenta
41	chr11:93639200-93641200	Weak transcription	HSMMtube	muscle
42	chr11:93639400-93640600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:93639600-93640400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:93639600-93642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:93640000-93640400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:93640200-93641200	Weak transcription	NHDF-Ad	bronchial
47	chr11:93640200-93641400	Weak transcription	NH-A	brain
48	chr11:93640400-93641400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:93640400-93641400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:93640400-93641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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