Variant report

Variant	esv3398527
Chromosome Location	chr11:119951792-119955490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 217 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188038414	chr11:119951800-119951801	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552620413	chr11:119951803-119951804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545111978	chr11:119951805-119951806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577691341	chr11:119951813-119951814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371063623	chr11:119951821-119951822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192181586	chr11:119951835-119951836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147827140	chr11:119951865-119951866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112690065	chr11:119951869-119951870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12365185	chr11:119951870-119951871	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372765659	chr11:119951880-119951881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12791310	chr11:119951884-119951885	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561822078	chr11:119951887-119951888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529218345	chr11:119951896-119951897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141378860	chr11:119951950-119951951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559415679	chr11:119951951-119951952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201737895	chr11:119951963-119951964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146983189	chr11:119951969-119951970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551512231	chr11:119951985-119951986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12418431	chr11:119952007-119952008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570217298	chr11:119952024-119952025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12418418	chr11:119952028-119952029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12418420	chr11:119952039-119952040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12418421	chr11:119952040-119952041	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537246051	chr11:119952045-119952046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187860250	chr11:119952063-119952064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567849116	chr11:119952065-119952066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535349475	chr11:119952070-119952071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191637327	chr11:119952104-119952105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75479158	chr11:119952105-119952106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184453215	chr11:119952122-119952123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367814257	chr11:119952131-119952132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372678390	chr11:119952137-119952138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2508631	chr11:119952154-119952155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557029903	chr11:119952188-119952189	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575372313	chr11:119952192-119952193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2848726	chr11:119952215-119952216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543233512	chr11:119952217-119952218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2848717	chr11:119952252-119952253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561945065	chr11:119952253-119952254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2848718	chr11:119952254-119952255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200911800	chr11:119952259-119952260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4938771	chr11:119952265-119952266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2848719	chr11:119952266-119952267	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2848720	chr11:119952267-119952268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75001722	chr11:119952273-119952274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4938772	chr11:119952289-119952290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573828041	chr11:119952298-119952299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78642088	chr11:119952299-119952300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2924345	chr11:119952303-119952304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2924344	chr11:119952304-119952305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119950200-119951800	Enhancers	Fetal Muscle Trunk	muscle
2	chr11:119950400-119956400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:119950800-119954600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:119950800-119956400	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:119951200-119956400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:119951600-119953200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:119951800-119953400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:119953400-119954400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:119954400-119955000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:119954600-119955000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr11:119954600-119955000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:119954800-119955000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr11:119954800-119955200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:119954800-119955200	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr11:119955000-119956400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:119955200-119956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:119955400-119961000	Weak transcription	Esophagus	oesophagus

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