Variant report

Variant	esv2503353
Chromosome Location	chr11:92868997-92876505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183936520	chr11:92869033-92869034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188786083	chr11:92869035-92869036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576855705	chr11:92869097-92869098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552469215	chr11:92869101-92869102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111436055	chr11:92869122-92869123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149817835	chr11:92869125-92869126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530148278	chr11:92869143-92869144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193028022	chr11:92869176-92869177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560571034	chr11:92869246-92869247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562386964	chr11:92869257-92869258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148523164	chr11:92869296-92869297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551187620	chr11:92869304-92869305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377159421	chr11:92869309-92869310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571180577	chr11:92869315-92869316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538503393	chr11:92869338-92869339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370598757	chr11:92869355-92869356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550312259	chr11:92869385-92869386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568787503	chr11:92869537-92869538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375571221	chr11:92869566-92869567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536008128	chr11:92869569-92869570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116721308	chr11:92869609-92869610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572987620	chr11:92869625-92869626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79298682	chr11:92869680-92869681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540292258	chr11:92869694-92869695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377622367	chr11:92869698-92869699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373160336	chr11:92869721-92869722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377749430	chr11:92869738-92869739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112577493	chr11:92869749-92869750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558303826	chr11:92869773-92869774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576742678	chr11:92869781-92869782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201684126	chr11:92869803-92869804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544061642	chr11:92869807-92869808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562746200	chr11:92869835-92869836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534905336	chr11:92869893-92869894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550263726	chr11:92870123-92870124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28866894	chr11:92870519-92870520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530583956	chr11:92871261-92871262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10466329	chr11:92873753-92873754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10466330	chr11:92873911-92873912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28877037	chr11:92874478-92874479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541999994	chr11:92874810-92874811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201353995	chr11:92874816-92874817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202117594	chr11:92874850-92874851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200259202	chr11:92874870-92874871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201154926	chr11:92874996-92874997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199870046	chr11:92875000-92875001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200512910	chr11:92875018-92875019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112973091	chr11:92875049-92875050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113887032	chr11:92875276-92875277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199685090	chr11:92875290-92875291	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	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92860000-92869600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:92862800-92880400	Weak transcription	Aorta	Aorta
3	chr11:92864200-92876400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:92866600-92880000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:92867200-92896400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:92868000-92876400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:92868000-92889000	Weak transcription	Adipose Nuclei	Adipose
8	chr11:92868400-92880000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:92868400-92914600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:92869600-92869800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:92874000-92880400	Weak transcription	NH-A	brain
12	chr11:92875000-92878400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:92875000-92892800	Weak transcription	Primary B cells from cord blood	blood
14	chr11:92875400-92910400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:92875600-92876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:92875800-92880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:92876000-92879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:92876200-92876400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:92876200-92877800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr11:92876400-92876600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:92876400-92876600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:92876400-92876600	Enhancers	Primary T cells from cord blood	blood
23	chr11:92876400-92876600	Enhancers	Fetal Lung	lung
24	chr11:92876400-92876600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
25	chr11:92876400-92876800	Enhancers	GM12878-XiMat	blood
26	chr11:92876400-92877000	Enhancers	Osteobl	bone
27	chr11:92876400-92877200	Enhancers	HSMM	muscle
28	chr11:92876400-92877400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:92876400-92896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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