Variant report

Variant	esv3693099
Chromosome Location	chr11:104923951-104930676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 271 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs508760	chr11:104923951-104923952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs499695	chr11:104923963-104923964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140552431	chr11:104923992-104923993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577243444	chr11:104924020-104924021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577019348	chr11:104924021-104924022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112392257	chr11:104924083-104924084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142160274	chr11:104924118-104924119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs501422	chr11:104924125-104924126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561933025	chr11:104924148-104924149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572240940	chr11:104924165-104924166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575049057	chr11:104924186-104924187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150859943	chr11:104924210-104924211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139295907	chr11:104924225-104924226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1785883	chr11:104924246-104924247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543074770	chr11:104924319-104924320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562949683	chr11:104924330-104924331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183499324	chr11:104924344-104924345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150002871	chr11:104924366-104924367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568643841	chr11:104924370-104924371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375347237	chr11:104924380-104924381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547670457	chr11:104924429-104924430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146552400	chr11:104924472-104924473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115033740	chr11:104924500-104924501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141179499	chr11:104924501-104924502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12288313	chr11:104924520-104924521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570086157	chr11:104924541-104924542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535812886	chr11:104924556-104924557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143904278	chr11:104924575-104924576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572248652	chr11:104924666-104924667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541263087	chr11:104924684-104924685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558611801	chr11:104924702-104924703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189401071	chr11:104924704-104924705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146877540	chr11:104924709-104924710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562441	chr11:104924786-104924787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs148991853	chr11:104924791-104924792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528890226	chr11:104924807-104924808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143755852	chr11:104924837-104924838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562452305	chr11:104924871-104924872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527968387	chr11:104924902-104924903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182547633	chr11:104924937-104924938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563562	chr11:104924938-104924939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187159949	chr11:104924965-104924966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148132350	chr11:104924966-104924967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12800151	chr11:104924978-104924979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs535900780	chr11:104924995-104924996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12798696	chr11:104924996-104924997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570444593	chr11:104925041-104925042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546831692	chr11:104925045-104925046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547005323	chr11:104925051-104925052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140211629	chr11:104925053-104925054	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
Prostate cancer	18632612	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104916800-104924400	Weak transcription	Left Ventricle	heart
2	chr11:104918200-104925200	Weak transcription	Ovary	ovary
3	chr11:104921400-104924600	Enhancers	HepG2	liver
4	chr11:104924400-104924600	Enhancers	Left Ventricle	heart
5	chr11:104924600-104927000	Weak transcription	HepG2	liver
6	chr11:104925600-104926400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:104926400-104931600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:104927000-104929200	Enhancers	HepG2	liver
9	chr11:104927000-104936200	Weak transcription	Small Intestine	intestine
10	chr11:104928400-104928800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:104929200-104930200	Weak transcription	HepG2	liver

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