Variant report

Variant	esv1795101
Chromosome Location	chr11:119952815-119956750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 216 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs563301015	chr11:119952841-119952842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56104642	chr11:119952842-119952843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530488261	chr11:119952859-119952860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542715517	chr11:119952885-119952886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561277789	chr11:119952909-119952910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1787019	chr11:119952914-119952915	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546829021	chr11:119952930-119952931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117991482	chr11:119952937-119952938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571590561	chr11:119952950-119952951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146359191	chr11:119952953-119952954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550530511	chr11:119952961-119952962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188848603	chr11:119952962-119952963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536310664	chr11:119952965-119952966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202119554	chr11:119952966-119952967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371131932	chr11:119953005-119953006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2845937	chr11:119953028-119953029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555052064	chr11:119953052-119953053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12223508	chr11:119953061-119953062	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs28440895	chr11:119953064-119953065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534801327	chr11:119953076-119953077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553240548	chr11:119953089-119953090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370703836	chr11:119953090-119953091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11606560	chr11:119953098-119953099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117067488	chr11:119953104-119953105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575198471	chr11:119953113-119953114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201570111	chr11:119953124-119953125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189470140	chr11:119953148-119953149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561026751	chr11:119953155-119953156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528203418	chr11:119953164-119953165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540404699	chr11:119953176-119953177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565156820	chr11:119953224-119953225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532635530	chr11:119953225-119953226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367622200	chr11:119953237-119953238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550873806	chr11:119953244-119953245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569113833	chr11:119953278-119953279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370185299	chr11:119953279-119953280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199832549	chr11:119953283-119953284	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374905264	chr11:119953306-119953307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368424646	chr11:119953353-119953354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530105356	chr11:119953362-119953363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372306568	chr11:119953390-119953391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56068016	chr11:119953414-119953415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376472910	chr11:119953508-119953509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200735022	chr11:119953677-119953678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370870305	chr11:119953678-119953679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112299373	chr11:119953706-119953707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201724592	chr11:119953785-119953786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75734249	chr11:119953811-119953812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79694022	chr11:119953818-119953819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368466655	chr11:119953848-119953849	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119950400-119956400	Weak transcription	Brain Substantia Nigra	brain
2	chr11:119950800-119954600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:119950800-119956400	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:119951200-119956400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:119951600-119953200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:119951800-119953400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:119953400-119954400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:119954400-119955000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:119954600-119955000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr11:119954600-119955000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr11:119954800-119955000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr11:119954800-119955200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:119954800-119955200	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr11:119955000-119956400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:119955200-119956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:119955400-119961000	Weak transcription	Esophagus	oesophagus
17	chr11:119956200-119957200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:119956400-119959200	Enhancers	Brain Angular Gyrus	brain
19	chr11:119956400-119959400	Enhancers	Brain Anterior Caudate	brain
20	chr11:119956400-119959400	Enhancers	Brain Hippocampus Middle	brain
21	chr11:119956400-119959400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:119956400-119959400	Enhancers	Brain Substantia Nigra	brain
23	chr11:119956400-119959800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:119956400-119962800	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:119956600-119957600	Enhancers	Fetal Brain Male	brain

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