Variant report

Variant	esv3423283
Chromosome Location	chr11:102522642-102526940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530130280	chr11:102523624-102523625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1276278	chr11:102523641-102523642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368752733	chr11:102523658-102523659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541575434	chr11:102523739-102523740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543298915	chr11:102523751-102523752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115708246	chr11:102523773-102523774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141290010	chr11:102523781-102523782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114093860	chr11:102523782-102523783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529580122	chr11:102523783-102523784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563146033	chr11:102523832-102523833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112301777	chr11:102523893-102523894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551872789	chr11:102524013-102524014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201117953	chr11:102524045-102524046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398045490	chr11:102524054-102524055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558956721	chr11:102524055-102524056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74700968	chr11:102524092-102524093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557680727	chr11:102524101-102524102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371832096	chr11:102524117-102524118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75580840	chr11:102524128-102524129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374217099	chr11:102524133-102524134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530585326	chr11:102524146-102524147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17099319	chr11:102524153-102524154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143272030	chr11:102524166-102524167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575997627	chr11:102524167-102524168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191996194	chr11:102524185-102524186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553290031	chr11:102524201-102524202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148330730	chr11:102524206-102524207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17099323	chr11:102524218-102524219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75047574	chr11:102524284-102524285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374543281	chr11:102524287-102524288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112446153	chr11:102524306-102524307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150405536	chr11:102524321-102524322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557300405	chr11:102524336-102524337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367727858	chr11:102524375-102524376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542990317	chr11:102524376-102524377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182909946	chr11:102524489-102524490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73584665	chr11:102524497-102524498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73584666	chr11:102524508-102524509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117662512	chr11:102524529-102524530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530544960	chr11:102524531-102524532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376496287	chr11:102524584-102524585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1276277	chr11:102524591-102524592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377718643	chr11:102524596-102524597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529891655	chr11:102524600-102524601	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567715783	chr11:102524603-102524604	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373876767	chr11:102524604-102524605	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546964442	chr11:102524617-102524618	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566777122	chr11:102524623-102524624	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538895497	chr11:102524627-102524628	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138536155	chr11:102524635-102524636	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Melanoma	22183965	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
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102523600-102524800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:102524000-102524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:102524600-102524800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:102524600-102525000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr11:102524600-102525000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:102524600-102525000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr11:102524600-102525000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:102524800-102525000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:102525000-102527400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:102525000-102546400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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