Variant report

Variant	esv3372045
Chromosome Location	chr11:58592276-58597974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs186743764	chr11:58593011-58593012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371545758	chr11:58593022-58593023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573653548	chr11:58593057-58593058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527739451	chr11:58593112-58593113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11229647	chr11:58593128-58593129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs199603812	chr11:58593132-58593133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567315381	chr11:58593138-58593139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12278955	chr11:58593173-58593174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538021670	chr11:58593182-58593183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190007772	chr11:58593187-58593188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558883137	chr11:58593363-58593364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371065366	chr11:58593376-58593377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553235167	chr11:58593414-58593415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545380580	chr11:58593415-58593416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1943275	chr11:58593419-58593420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538591506	chr11:58593422-58593423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542697732	chr11:58593424-58593425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371419929	chr11:58593510-58593511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373695194	chr11:58593571-58593572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553305063	chr11:58593576-58593577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182593608	chr11:58593606-58593607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542279435	chr11:58593696-58593697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188221190	chr11:58593716-58593717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576086088	chr11:58593719-58593720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1943276	chr11:58593748-58593749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs562981060	chr11:58593752-58593753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533674146	chr11:58593782-58593783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371510885	chr11:58593806-58593807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560480941	chr11:58593848-58593849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193159802	chr11:58593872-58593873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549424717	chr11:58593876-58593877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567731565	chr11:58593907-58593908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369303742	chr11:58593908-58593909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200052228	chr11:58593910-58593911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80184726	chr11:58593911-58593912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531750728	chr11:58593917-58593918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549942682	chr11:58593929-58593930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145424476	chr11:58594003-58594004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77313184	chr11:58594049-58594050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543913631	chr11:58594055-58594056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185359239	chr11:58594074-58594075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565307110	chr11:58594081-58594082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113645762	chr11:58594134-58594135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554304078	chr11:58594157-58594158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140340861	chr11:58594189-58594190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114785255	chr11:58594192-58594193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576078495	chr11:58594194-58594195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189021818	chr11:58594229-58594230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556674542	chr11:58594230-58594231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192624344	chr11:58594232-58594233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58593000-58596600	Weak transcription	HMEC	breast
2	chr11:58593200-58596600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:58595600-58598600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:58596600-58597800	Enhancers	HMEC	breast
5	chr11:58596600-58597800	Enhancers	NHEK	skin
6	chr11:58596600-58598000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:58596600-58598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:58596600-58598000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:58596800-58604200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:58597200-58597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:58597200-58598000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:58597200-58598200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:58597400-58597600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:58597600-58597800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:58597600-58597800	Enhancers	Hela-S3	cervix
16	chr11:58597600-58597800	Enhancers	Osteobl	bone
17	chr11:58597600-58598000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:58597600-58598000	Enhancers	NHDF-Ad	bronchial
19	chr11:58597600-58598200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:58597800-58598200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:58597800-58599000	Weak transcription	NHEK	skin
22	chr11:58597800-58599400	Weak transcription	HMEC	breast

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