Variant report

Variant	esv3454842
Chromosome Location	chr11:93019304-93024102
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: 153 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs575144500	chr11:93019307-93019308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4575225	chr11:93019466-93019467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11020242	chr11:93019552-93019553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542912895	chr11:93019676-93019677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7483680	chr11:93019731-93019732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375141813	chr11:93019754-93019755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78870262	chr11:93019795-93019796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550326867	chr11:93019832-93019833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143559945	chr11:93019833-93019834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185644607	chr11:93019837-93019838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113413663	chr11:93019891-93019892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12807018	chr11:93019901-93019902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191531661	chr11:93019903-93019904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182558138	chr11:93019905-93019906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12226442	chr11:93019924-93019925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570507651	chr11:93019929-93019930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537681370	chr11:93019932-93019933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112219507	chr11:93019941-93019942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527518716	chr11:93019946-93019947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369721824	chr11:93019947-93019948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574687869	chr11:93019953-93019954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553703870	chr11:93019960-93019961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554064591	chr11:93019991-93019992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193018512	chr11:93020021-93020022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370148373	chr11:93020054-93020055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542002538	chr11:93020059-93020060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183238264	chr11:93020094-93020095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564449705	chr11:93020113-93020114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576464723	chr11:93020143-93020144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562084148	chr11:93020168-93020169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562311582	chr11:93020227-93020228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147350159	chr11:93020272-93020273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531232014	chr11:93020273-93020274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187271005	chr11:93020275-93020276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543051661	chr11:93020321-93020322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559592137	chr11:93020335-93020336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192146794	chr11:93020355-93020356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551741600	chr11:93020443-93020444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148809519	chr11:93020459-93020460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11020243	chr11:93020483-93020484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs549563399	chr11:93020499-93020500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10765599	chr11:93020527-93020528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561142330	chr11:93020540-93020541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531594169	chr11:93020549-93020550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377310240	chr11:93020590-93020591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117745543	chr11:93020600-93020601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374350194	chr11:93020645-93020646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368570451	chr11:93020668-93020669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565197348	chr11:93020679-93020680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572348566	chr11:93020705-93020706	Enhancers Weak transcription	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:18 , 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	chr11:93019000-93019600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:93019400-93028600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:93020600-93021200	Enhancers	GM12878-XiMat	blood
7	chr11:93020600-93021600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:93021200-93021800	Flanking Active TSS	GM12878-XiMat	blood
9	chr11:93021400-93021600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:93021400-93021600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:93021600-93024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:93021800-93023400	Enhancers	GM12878-XiMat	blood
13	chr11:93022200-93022800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:93022800-93023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:93023000-93023200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:93023200-93028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:93023400-93025200	Weak transcription	GM12878-XiMat	blood
18	chr11:93023400-93025600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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