Variant report

Variant	esv2037427
Chromosome Location	chr11:104010295-104011018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558219954	chr11:104010318-104010319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186632524	chr11:104010332-104010333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550647476	chr11:104010344-104010345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530214103	chr11:104010346-104010347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370157056	chr11:104010359-104010360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145076619	chr11:104010381-104010382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373095377	chr11:104010480-104010481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374567888	chr11:104010484-104010485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368551678	chr11:104010485-104010486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566100813	chr11:104010486-104010487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532121159	chr11:104010488-104010489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550000245	chr11:104010493-104010494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545566358	chr11:104010678-104010679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552206905	chr11:104010691-104010692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375153939	chr11:104010800-104010801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7951741	chr11:104010804-104010805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371332446	chr11:104010815-104010816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73603998	chr11:104010817-104010818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17093712	chr11:104010829-104010830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537651192	chr11:104010835-104010836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78585740	chr11:104010858-104010859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150154259	chr11:104010929-104010930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79509484	chr11:104010947-104010948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553426234	chr11:104010960-104010961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573156705	chr11:104010961-104010962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531554368	chr11:104010977-104010978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138600408	chr11:104011000-104011001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559005518	chr11:104011009-104011010	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
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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103997000-104013400	Weak transcription	Ovary	ovary
2	chr11:104005800-104019400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:104005800-104031000	Weak transcription	Aorta	Aorta
4	chr11:104006200-104013400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:104008000-104017400	Weak transcription	Fetal Heart	heart

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