Variant report

Variant	esv3489637
Chromosome Location	chr11:101444510-101445559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11224873	chr11:101444532-101444533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544108082	chr11:101444541-101444542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567113757	chr11:101444651-101444652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536238883	chr11:101444652-101444653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375584806	chr11:101444675-101444676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150134652	chr11:101444678-101444679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80170162	chr11:101444685-101444686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58766729	chr11:101444688-101444689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11224874	chr11:101444689-101444690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57878426	chr11:101444697-101444698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72976319	chr11:101444722-101444723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372635385	chr11:101444727-101444728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561483708	chr11:101444777-101444778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10895144	chr11:101444783-101444784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs386756872	chr11:101444788-101444789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10895145	chr11:101444790-101444791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10895146	chr11:101444805-101444806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555037253	chr11:101444838-101444839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574787593	chr11:101444843-101444844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530869044	chr11:101444847-101444848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373571426	chr11:101444859-101444860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564197947	chr11:101444910-101444911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540610984	chr11:101444963-101444964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11224875	chr11:101444978-101444979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11224876	chr11:101445006-101445007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566834805	chr11:101445040-101445041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369415874	chr11:101445061-101445062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61918375	chr11:101445073-101445074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565027188	chr11:101445090-101445091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530642548	chr11:101445141-101445142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11224877	chr11:101445152-101445153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561014682	chr11:101445184-101445185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7129301	chr11:101445189-101445190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546152110	chr11:101445251-101445252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187645399	chr11:101445273-101445274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61918376	chr11:101445275-101445276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552361768	chr11:101445309-101445310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569390529	chr11:101445322-101445323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538431532	chr11:101445348-101445349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554795985	chr11:101445369-101445370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574860745	chr11:101445444-101445445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148057811	chr11:101445479-101445480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141792199	chr11:101445482-101445483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150549553	chr11:101445546-101445547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Melanoma	22183965	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
Myelofibrosis	22110671	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
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101426400-101447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:101438400-101445400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:101443800-101446000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:101444200-101445000	Enhancers	NHLF	lung
5	chr11:101444400-101444800	Enhancers	Fetal Lung	lung
6	chr11:101444400-101449200	Enhancers	NHDF-Ad	bronchial
7	chr11:101444800-101446000	Weak transcription	Fetal Lung	lung
8	chr11:101445000-101446000	Weak transcription	NHLF	lung
9	chr11:101445400-101447800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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