Variant report

Variant	esv3374114
Chromosome Location	chr11:76948837-76949367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576951409	chr11:76948842-76948843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12576053	chr11:76948883-76948884	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs76470233	chr11:76948914-76948915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376652275	chr11:76948915-76948916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375696211	chr11:76948923-76948924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556333403	chr11:76948938-76948939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575786554	chr11:76948939-76948940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541769519	chr11:76948964-76948965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368322452	chr11:76948982-76948983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574529551	chr11:76948985-76948986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201915093	chr11:76948991-76948992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181427092	chr11:76948994-76948995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150447628	chr11:76949038-76949039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560250597	chr11:76949079-76949080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77475391	chr11:76949225-76949226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552340784	chr11:76949294-76949295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146838148	chr11:76949317-76949318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371331746	chr11:76949355-76949356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Prostate cancer	18632612	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76944600-76954600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:76947400-76949200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:76947800-76949000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:76949000-76954800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:76949200-76954600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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