Variant report

Variant	esv3452186
Chromosome Location	chr11:121053973-121057504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs397966883	chr11:121053977-121053978	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs4936592	chr11:121053985-121053986	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540828593	chr11:121054010-121054011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59174011	chr11:121054035-121054036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150536484	chr11:121054038-121054039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555654812	chr11:121054039-121054040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113510053	chr11:121054070-121054071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573833059	chr11:121054077-121054078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117621110	chr11:121054088-121054089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202102360	chr11:121054118-121054119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139512887	chr11:121054144-121054145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577859822	chr11:121054184-121054185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544985507	chr11:121054211-121054212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552409136	chr11:121054274-121054275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375292357	chr11:121054281-121054282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369938249	chr11:121054299-121054300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373554148	chr11:121054326-121054327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570615780	chr11:121054358-121054359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530536325	chr11:121054397-121054398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565698533	chr11:121054434-121054435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542643753	chr11:121054443-121054444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549361998	chr11:121054463-121054464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561266310	chr11:121054546-121054547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528624516	chr11:121054584-121054585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546821117	chr11:121054590-121054591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571406487	chr11:121054600-121054601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11218191	chr11:121054619-121054620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551064896	chr11:121054740-121054741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556687621	chr11:121054746-121054747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569111845	chr11:121054747-121054748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11606279	chr11:121054750-121054751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555667275	chr11:121054751-121054752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369412425	chr11:121054763-121054764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568505134	chr11:121054849-121054850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533158745	chr11:121054855-121054856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145556510	chr11:121054862-121054863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553250812	chr11:121054881-121054882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141468290	chr11:121054888-121054889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183118044	chr11:121054901-121054902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557020585	chr11:121054971-121054972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575101262	chr11:121054981-121054982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535459201	chr11:121054985-121054986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542619869	chr11:121054988-121054989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188546126	chr11:121055025-121055026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554108878	chr11:121055101-121055102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551694351	chr11:121055109-121055110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193062953	chr11:121055115-121055116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540419459	chr11:121055135-121055136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184815465	chr11:121055180-121055181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12787375	chr11:121055191-121055192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
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
Glioblastoma multiforme	21080181	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	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
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
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
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121039600-121055200	Weak transcription	Ovary	ovary
2	chr11:121049200-121054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:121051200-121056200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:121052800-121054000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:121052800-121065600	Weak transcription	Gastric	stomach
6	chr11:121053400-121057600	Weak transcription	Aorta	Aorta
7	chr11:121053800-121065600	Weak transcription	Pancreas	Pancrea
8	chr11:121054400-121061800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:121055200-121055400	ZNF genes & repeats	Ovary	ovary
10	chr11:121055400-121065600	Weak transcription	Ovary	ovary
11	chr11:121055600-121065600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:121056000-121060400	Weak transcription	Brain Anterior Caudate	brain
13	chr11:121056200-121062000	Weak transcription	Fetal Brain Female	brain
14	chr11:121056800-121061800	Weak transcription	Fetal Heart	heart
15	chr11:121056800-121065400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:121056800-121065600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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