Variant report

Variant	esv992255
Chromosome Location	chr11:93020423-93024239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93018701..93021080-chr11:93023667..93026629,2	K562	blood:
2	chr11:93018701..93021080-chr11:93023667..93026629,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551741600	chr11:93020443-93020444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148809519	chr11:93020459-93020460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11020243	chr11:93020483-93020484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs549563399	chr11:93020499-93020500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10765599	chr11:93020527-93020528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561142330	chr11:93020540-93020541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531594169	chr11:93020549-93020550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377310240	chr11:93020590-93020591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117745543	chr11:93020600-93020601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374350194	chr11:93020645-93020646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368570451	chr11:93020668-93020669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565197348	chr11:93020679-93020680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572348566	chr11:93020705-93020706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539874960	chr11:93020722-93020723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558122734	chr11:93020735-93020736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184449038	chr11:93020787-93020788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116859967	chr11:93020848-93020849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562006158	chr11:93020881-93020882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61920548	chr11:93020958-93020959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7936149	chr11:93020998-93020999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7950862	chr11:93021028-93021029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528430567	chr11:93021052-93021053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368446701	chr11:93021139-93021140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533438825	chr11:93021140-93021141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545530526	chr11:93021141-93021142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564109784	chr11:93021142-93021143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150886665	chr11:93021181-93021182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549861105	chr11:93021285-93021286	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs568034211	chr11:93021294-93021295	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs532697732	chr11:93021303-93021304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547943269	chr11:93021318-93021319	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12282420	chr11:93021346-93021347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373162904	chr11:93021394-93021395	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547597343	chr11:93021418-93021419	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566159666	chr11:93021522-93021523	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs530353786	chr11:93021550-93021551	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549080508	chr11:93021668-93021669	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539748448	chr11:93021688-93021689	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567418455	chr11:93021753-93021754	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537833321	chr11:93021820-93021821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557729642	chr11:93021853-93021854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139339600	chr11:93021857-93021858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537309711	chr11:93021876-93021877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537023594	chr11:93021929-93021930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555860299	chr11:93021942-93021943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573783545	chr11:93022092-93022093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115280387	chr11:93022131-93022132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139696950	chr11:93022157-93022158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553149861	chr11:93022159-93022160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375605788	chr11:93022160-93022161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Prostate cancer	18632612	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93016600-93020600	Weak transcription	GM12878-XiMat	blood
2	chr11:93018800-93020600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:93018800-93021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93019400-93028600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:93020600-93021200	Enhancers	GM12878-XiMat	blood
6	chr11:93020600-93021600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:93021200-93021800	Flanking Active TSS	GM12878-XiMat	blood
8	chr11:93021400-93021600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:93021400-93021600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:93021600-93024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:93021800-93023400	Enhancers	GM12878-XiMat	blood
12	chr11:93022200-93022800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:93022800-93023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:93023000-93023200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:93023200-93028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:93023400-93025200	Weak transcription	GM12878-XiMat	blood
17	chr11:93023400-93025600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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