Variant report

Variant	esv14526
Chromosome Location	chr11:104005959-104006418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188366091	chr11:104005960-104005961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11226193	chr11:104005970-104005971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531295013	chr11:104005976-104005977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547982103	chr11:104006033-104006034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568144898	chr11:104006047-104006048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11226194	chr11:104006051-104006052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11226195	chr11:104006061-104006062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567042487	chr11:104006103-104006104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578191565	chr11:104006117-104006118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11226196	chr11:104006135-104006136	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs151299104	chr11:104006158-104006159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2515075	chr11:104006183-104006184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192250439	chr11:104006184-104006185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113409121	chr11:104006186-104006187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543083253	chr11:104006191-104006192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11226197	chr11:104006219-104006220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574574376	chr11:104006257-104006258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11226198	chr11:104006261-104006262	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11226199	chr11:104006300-104006301	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73603983	chr11:104006326-104006327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs361273	chr11:104006346-104006347	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144259248	chr11:104006368-104006369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531254990	chr11:104006371-104006372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147777791	chr11:104006395-104006396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11226200	chr11:104006409-104006410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61892486	chr11:104006414-104006415	Weak transcription Enhancers	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
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103997000-104013400	Weak transcription	Ovary	ovary
2	chr11:104004400-104006400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:104004600-104006200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:104005000-104006000	Enhancers	HUVEC	blood vessel
5	chr11:104005200-104006000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:104005200-104006200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:104005200-104006200	Enhancers	HMEC	breast
8	chr11:104005400-104007000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:104005800-104006400	Enhancers	A549	lung
10	chr11:104005800-104007400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:104005800-104007400	Weak transcription	Fetal Heart	heart
12	chr11:104005800-104019400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:104005800-104031000	Weak transcription	Aorta	Aorta
14	chr11:104006000-104007000	Weak transcription	HUVEC	blood vessel
15	chr11:104006200-104013400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:104006400-104006800	Weak transcription	A549	lung
17	chr11:104006400-104007200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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