Variant report

Variant	esv3323922
Chromosome Location	chr11:120984942-120986190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191782140	chr11:120984942-120984943	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541903402	chr11:120984982-120984983	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560294643	chr11:120984989-120984990	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs667125	chr11:120984999-120985000	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34346057	chr11:120985029-120985030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs600937	chr11:120985032-120985033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372400645	chr11:120985065-120985066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568063617	chr11:120985066-120985067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564787908	chr11:120985072-120985073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374684371	chr11:120985102-120985103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184710006	chr11:120985131-120985132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568282338	chr11:120985246-120985247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529455804	chr11:120985247-120985248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200198755	chr11:120985310-120985311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568051756	chr11:120985326-120985327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11218143	chr11:120985376-120985377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4936575	chr11:120985377-120985378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11218144	chr11:120985396-120985397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374001972	chr11:120985401-120985402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3016452	chr11:120985405-120985406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201236044	chr11:120985418-120985419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11218145	chr11:120985438-120985439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3016243	chr11:120985448-120985449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201003368	chr11:120985512-120985513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372859764	chr11:120985522-120985523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569719371	chr11:120985612-120985613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189271348	chr11:120985694-120985695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565875307	chr11:120985718-120985719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539805448	chr11:120985739-120985740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12282998	chr11:120985747-120985748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113335578	chr11:120985844-120985845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370705169	chr11:120985856-120985857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199647179	chr11:120985954-120985955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185167289	chr11:120985964-120985965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556505836	chr11:120985966-120985967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534685913	chr11:120985989-120985990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80282202	chr11:120986075-120986076	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:98)

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
Autism	22543975	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120975800-121005600	Weak transcription	Right Ventricle	heart
2	chr11:120976600-120992200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:120976600-120998400	Weak transcription	Brain Anterior Caudate	brain
4	chr11:120980000-120991000	Weak transcription	Aorta	Aorta
5	chr11:120980600-120998400	Weak transcription	Fetal Brain Female	brain
6	chr11:120981400-120992400	Weak transcription	Brain Germinal Matrix	brain
7	chr11:120983400-120991000	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:120983400-120993400	Weak transcription	Brain Substantia Nigra	brain
9	chr11:120983600-120987600	Weak transcription	Fetal Lung	lung
10	chr11:120983800-120991000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:120983800-120992800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:120983800-120993200	Weak transcription	Fetal Brain Male	brain
13	chr11:120984400-120985000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:120984400-120993800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:120984800-120988400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:120984800-120988600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:120985000-120990800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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