Variant report

Variant	esv1814410
Chromosome Location	chr11:83696133-83775326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:83708534..83710057-chr11:83729711..83731527,2	K562	blood:
2	chr11:83708534..83710057-chr11:83729711..83731527,2	K562	blood:
3	chr11:83756394..83757894-chr8:43091429..43092930,2	MCF-7	breast:
4	chr11:83757394..83757894-chr8:43092430..43092931,2	MCF-7	breast:
5	chr11:83715504..83717050-chr11:83718239..83720670,2	K562	blood:
6	chr11:83715504..83717050-chr11:83718239..83720670,2	K562	blood:

Extended variants
information (count: 2325 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2325 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2062208	chr11:83696133-83696134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61898931	chr11:83696140-83696141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545836787	chr11:83696219-83696220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79673873	chr11:83696238-83696239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184388710	chr11:83696259-83696260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189620050	chr11:83696296-83696297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561948401	chr11:83696318-83696319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573949089	chr11:83696364-83696365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552941859	chr11:83696381-83696382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544202381	chr11:83696387-83696388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28644303	chr11:83696388-83696389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193093817	chr11:83696408-83696409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574555260	chr11:83696410-83696411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113055913	chr11:83696421-83696422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536361177	chr11:83696439-83696440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552628144	chr11:83696462-83696463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555069236	chr11:83696485-83696486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185021894	chr11:83696495-83696496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370942745	chr11:83696497-83696498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528444031	chr11:83696511-83696512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151085506	chr11:83696537-83696538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374171494	chr11:83696552-83696553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573594114	chr11:83696562-83696563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568128733	chr11:83696655-83696656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189006903	chr11:83696662-83696663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142094618	chr11:83696687-83696688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569392127	chr11:83696712-83696713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539692517	chr11:83696723-83696724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144329807	chr11:83696755-83696756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543797169	chr11:83696788-83696789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573010691	chr11:83696800-83696801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12809044	chr11:83696856-83696857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555375737	chr11:83696913-83696914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573684819	chr11:83696929-83696930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118094401	chr11:83697009-83697010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562684798	chr11:83697017-83697018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577761828	chr11:83697024-83697025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181647646	chr11:83697042-83697043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147789062	chr11:83697060-83697061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185586723	chr11:83697080-83697081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189575681	chr11:83697094-83697095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561700196	chr11:83697121-83697122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7930271	chr11:83697169-83697170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202133220	chr11:83697175-83697176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180703978	chr11:83697180-83697181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375424112	chr11:83697234-83697235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569478875	chr11:83697337-83697338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540007332	chr11:83697352-83697353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551968524	chr11:83697382-83697383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113293920	chr11:83697423-83697424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83691600-83701200	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:83700400-83700600	Enhancers	Brain Cingulate Gyrus	brain
3	chr11:83700400-83701200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:83700600-83701200	Enhancers	Colon Smooth Muscle	Colon
5	chr11:83700600-83704600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:83700800-83701600	Enhancers	Fetal Stomach	stomach
7	chr11:83701000-83701200	Enhancers	Brain Angular Gyrus	brain
8	chr11:83701000-83701600	Enhancers	Brain Anterior Caudate	brain
9	chr11:83701200-83701400	Enhancers	Brain Hippocampus Middle	brain
10	chr11:83701200-83701600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:83701200-83701600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:83701200-83701800	Active TSS	Stomach Smooth Muscle	stomach
13	chr11:83701400-83702000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:83701400-83702200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:83701600-83701800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:83701800-83702000	Enhancers	Brain Angular Gyrus	brain
17	chr11:83704400-83705800	Enhancers	Fetal Heart	heart
18	chr11:83710000-83710200	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr11:83710200-83710600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:83713000-83713800	ZNF genes & repeats	Liver	Liver
21	chr11:83713200-83714800	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr11:83713400-83714800	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr11:83714800-83723200	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:83718800-83719000	Enhancers	Brain Angular Gyrus	brain
25	chr11:83719000-83722800	Weak transcription	Brain Angular Gyrus	brain
26	chr11:83720200-83720800	Enhancers	Brain Substantia Nigra	brain
27	chr11:83720600-83723800	Enhancers	Brain Anterior Caudate	brain
28	chr11:83720800-83722600	Weak transcription	Brain Substantia Nigra	brain
29	chr11:83721400-83721600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:83721600-83721800	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:83721600-83722600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:83722000-83723200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:83722600-83723800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:83722600-83723800	Enhancers	Brain Substantia Nigra	brain
35	chr11:83722600-83724400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:83722800-83723600	Enhancers	Brain Angular Gyrus	brain
37	chr11:83723200-83723800	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:83723200-83723800	Enhancers	Brain Hippocampus Middle	brain
39	chr11:83723200-83723800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:83723200-83723800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr11:83723200-83724400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:83723200-83724400	Enhancers	Colon Smooth Muscle	Colon
43	chr11:83723400-83723600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:83723400-83723600	Enhancers	Liver	Liver
45	chr11:83723400-83723600	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:83723400-83723800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr11:83723400-83723800	Enhancers	Ovary	ovary
48	chr11:83723400-83724000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:83723400-83724200	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:83723600-83731400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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