Variant report

Variant	esv1799544
Chromosome Location	chr11:93676224-93688541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
2	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
3	chr1:145200270..145202766-chr11:93677416..93679121,2	K562	blood:
4	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
5	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:

Variant related genes	Relation type
ENSG00000272709	chromatin interactions

Extended variants
information (count: 346 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2056247	chr11:93676224-93676225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550272694	chr11:93676225-93676226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72962837	chr11:93676262-93676263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146787381	chr11:93676269-93676270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567312400	chr11:93676300-93676301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547852327	chr11:93676301-93676302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566077117	chr11:93676338-93676339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs68019383	chr11:93676398-93676399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558132691	chr11:93676416-93676417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140466763	chr11:93676457-93676458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112972244	chr11:93676476-93676477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1356566	chr11:93676487-93676488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574486243	chr11:93676504-93676505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182251481	chr11:93676505-93676506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144156995	chr11:93676507-93676508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146526399	chr11:93676523-93676524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545711039	chr11:93676529-93676530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149108203	chr11:93676539-93676540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531613354	chr11:93676580-93676581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569787490	chr11:93676628-93676629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538877493	chr11:93676630-93676631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570445684	chr11:93676647-93676648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114524763	chr11:93676678-93676679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561912813	chr11:93676719-93676720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs951301	chr11:93676791-93676792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143155163	chr11:93676801-93676802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566093662	chr11:93676809-93676810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539814353	chr11:93676858-93676859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185187084	chr11:93676866-93676867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570287335	chr11:93676882-93676883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537637871	chr11:93676898-93676899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559094011	chr11:93676902-93676903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546107099	chr11:93676929-93676930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2032400	chr11:93676937-93676938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs535183814	chr11:93676990-93676991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553419665	chr11:93677042-93677043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148246398	chr11:93677082-93677083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545512141	chr11:93677123-93677124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140350103	chr11:93677201-93677202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2399751	chr11:93677209-93677210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375286093	chr11:93677230-93677231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564095539	chr11:93677307-93677308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576299811	chr11:93677391-93677392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535326888	chr11:93677414-93677415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543697497	chr11:93677424-93677425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368672457	chr11:93677441-93677442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189867259	chr11:93677457-93677458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561736375	chr11:93677468-93677469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2456561	chr11:93677515-93677516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2462748	chr11:93677643-93677644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93675400-93678600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:93675600-93678400	Weak transcription	HMEC	breast
3	chr11:93675600-93678600	Weak transcription	NHEK	skin
4	chr11:93678400-93678600	Enhancers	HSMMtube	muscle
5	chr11:93678400-93678800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:93678400-93679000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:93678400-93679200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:93678400-93679200	Enhancers	HMEC	breast
9	chr11:93678600-93678800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:93678600-93678800	Flanking Active TSS	HSMM	muscle
11	chr11:93678600-93679000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:93678600-93679000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:93678600-93679000	Flanking Active TSS	HSMMtube	muscle
14	chr11:93678600-93679000	Bivalent Enhancer	Osteobl	bone
15	chr11:93678600-93679200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:93678600-93679200	Enhancers	NHEK	skin
17	chr11:93678800-93679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:93678800-93679000	Enhancers	NH-A	brain
19	chr11:93678800-93679200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:93678800-93679200	Enhancers	HSMM	muscle
21	chr11:93679000-93679200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:93679000-93679200	Enhancers	HSMMtube	muscle
23	chr11:93679000-93681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:93679000-93681600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:93679200-93681400	Weak transcription	HMEC	breast
26	chr11:93679200-93681400	Weak transcription	NHEK	skin
27	chr11:93679200-93681600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:93679200-93681600	Weak transcription	HSMM	muscle
29	chr11:93679200-93681800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:93679200-93681800	Weak transcription	HSMMtube	muscle
31	chr11:93681400-93681600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:93681400-93682400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:93681400-93682400	Enhancers	NHEK	skin
34	chr11:93681400-93683400	Enhancers	HMEC	breast
35	chr11:93681600-93681800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:93681600-93682000	Enhancers	NH-A	brain
37	chr11:93681600-93682000	Enhancers	NHDF-Ad	bronchial
38	chr11:93681600-93682200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:93681600-93682200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:93681600-93682200	Bivalent Enhancer	Osteobl	bone
41	chr11:93681600-93682400	Enhancers	HSMM	muscle
42	chr11:93681600-93683000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:93681600-93683200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:93681800-93682000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:93681800-93682200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:93681800-93682400	Enhancers	HSMMtube	muscle
47	chr11:93681800-93683000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:93682000-93682200	Bivalent Enhancer	NHDF-Ad	bronchial
49	chr11:93682200-93682400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:93682200-93682600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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