Variant report

Variant	esv3461785
Chromosome Location	chr11:58631773-58636556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs143179429	chr11:58631795-58631796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189754646	chr11:58631807-58631808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557696623	chr11:58631827-58631828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56001071	chr11:58631836-58631837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202026188	chr11:58631840-58631841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573016041	chr11:58631848-58631849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76907161	chr11:58631934-58631935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192746597	chr11:58631942-58631943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573297132	chr11:58631945-58631946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573402234	chr11:58631982-58631983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs680976	chr11:58632016-58632017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs565839010	chr11:58632036-58632037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562586357	chr11:58632046-58632047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146259738	chr11:58632056-58632057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12290133	chr11:58632089-58632090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376414479	chr11:58632092-58632093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528708250	chr11:58632099-58632100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547269384	chr11:58632164-58632165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs524689	chr11:58632171-58632172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535841975	chr11:58632201-58632202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs680053	chr11:58632229-58632230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185142693	chr11:58632255-58632256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371193328	chr11:58632339-58632340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs679551	chr11:58632368-58632369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560885206	chr11:58632370-58632371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539521333	chr11:58632374-58632375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs526640	chr11:58632395-58632396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572904521	chr11:58632403-58632404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533783197	chr11:58632448-58632449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565140004	chr11:58632458-58632459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555232906	chr11:58632507-58632508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573630237	chr11:58632556-58632557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs668254	chr11:58632565-58632566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562314477	chr11:58632578-58632579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs667889	chr11:58632589-58632590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201558425	chr11:58632621-58632622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377466432	chr11:58632622-58632623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386373890	chr11:58632623-58632624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375231606	chr11:58632629-58632630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397944262	chr11:58632630-58632631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560200321	chr11:58632642-58632643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563208821	chr11:58632643-58632644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529076192	chr11:58632708-58632709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542367136	chr11:58632766-58632767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374899018	chr11:58632767-58632768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562354049	chr11:58632822-58632823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529641864	chr11:58632830-58632831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551280411	chr11:58632834-58632835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374388632	chr11:58632884-58632885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569124130	chr11:58632918-58632919	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58631400-58635000	Enhancers	Thymus	Thymus
2	chr11:58631600-58632400	Enhancers	Fetal Thymus	thymus
3	chr11:58632400-58632800	Weak transcription	Fetal Thymus	thymus
4	chr11:58632800-58634600	Enhancers	Fetal Thymus	thymus
5	chr11:58633800-58634000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:58634000-58634800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:58634000-58635800	Enhancers	NHEK	skin
8	chr11:58634200-58634600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:58634200-58635600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:58634400-58635000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:58634400-58635600	Enhancers	HMEC	breast
12	chr11:58634800-58635400	Enhancers	NHDF-Ad	bronchial
13	chr11:58634800-58635600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:58635000-58635600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:58635000-58636000	Weak transcription	Thymus	Thymus
16	chr11:58635000-58668000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:58635600-58637600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:58636000-58636200	Enhancers	Thymus	Thymus

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