Variant report

Variant	nsv555609
Chromosome Location	chr11:83822181-83842498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 788 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10792722	chr11:83822181-83822182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565004930	chr11:83822186-83822187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146167816	chr11:83822284-83822285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372787256	chr11:83822324-83822325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547044280	chr11:83822325-83822326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529962889	chr11:83822337-83822338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181166964	chr11:83822347-83822348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569036174	chr11:83822355-83822356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7123516	chr11:83822386-83822387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548192193	chr11:83822406-83822407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117804854	chr11:83822429-83822430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537389825	chr11:83822447-83822448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576927539	chr11:83822451-83822452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186580382	chr11:83822477-83822478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367658575	chr11:83822524-83822525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189699251	chr11:83822596-83822597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7123584	chr11:83822651-83822652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554272819	chr11:83822665-83822666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180853496	chr11:83822689-83822690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185503354	chr11:83822706-83822707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554982620	chr11:83822736-83822737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72951862	chr11:83822805-83822806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190951347	chr11:83822827-83822828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574525393	chr11:83822845-83822846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565241615	chr11:83822847-83822848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532529402	chr11:83822900-83822901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541243928	chr11:83822974-83822975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559157713	chr11:83823042-83823043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200567731	chr11:83823049-83823050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183524826	chr11:83823054-83823055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79467118	chr11:83823079-83823080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73515725	chr11:83823096-83823097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377053040	chr11:83823111-83823112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143837474	chr11:83823116-83823117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541797925	chr11:83823119-83823120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530520215	chr11:83823149-83823150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552457500	chr11:83823157-83823158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570773668	chr11:83823164-83823165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534843208	chr11:83823165-83823166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546746465	chr11:83823180-83823181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370034639	chr11:83823194-83823195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536710007	chr11:83823215-83823216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188241673	chr11:83823330-83823331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191968202	chr11:83823352-83823353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200372057	chr11:83823366-83823367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28674633	chr11:83823373-83823374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558446859	chr11:83823380-83823381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60021668	chr11:83823383-83823384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576429691	chr11:83823389-83823390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537036646	chr11:83823390-83823391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83816600-83829200	Weak transcription	Brain Angular Gyrus	brain
2	chr11:83826200-83826600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:83826600-83827400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:83827400-83827800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:83827800-83828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:83827800-83828600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:83828000-83828400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:83828200-83828400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:83828400-83828600	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:83828600-83834400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:83829200-83831600	Enhancers	Brain Angular Gyrus	brain
12	chr11:83829600-83831400	Enhancers	Brain Hippocampus Middle	brain
13	chr11:83831000-83831200	Enhancers	Brain Anterior Caudate	brain
14	chr11:83831000-83831200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr11:83831200-83831800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:83831200-83839600	Weak transcription	Brain Anterior Caudate	brain
17	chr11:83831400-83834000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:83831600-83833000	Weak transcription	Brain Angular Gyrus	brain
19	chr11:83831800-83832000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:83832000-83833600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:83833000-83835600	Enhancers	Brain Angular Gyrus	brain
22	chr11:83833600-83834600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr11:83834000-83834800	Enhancers	Brain Hippocampus Middle	brain
24	chr11:83834000-83835200	Enhancers	Brain Substantia Nigra	brain
25	chr11:83834200-83835400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:83834400-83834800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:83834400-83835800	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:83834600-83835000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:83834600-83839600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:83834800-83835200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:83834800-83838400	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:83835200-83835400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:83835200-83838600	Weak transcription	Brain Substantia Nigra	brain
34	chr11:83835400-83842000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:83835600-83836600	Weak transcription	Brain Angular Gyrus	brain
36	chr11:83835800-83838600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:83836600-83837400	Enhancers	Brain Angular Gyrus	brain
38	chr11:83837400-83840200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:83838400-83839000	Enhancers	Brain Hippocampus Middle	brain
40	chr11:83838600-83840400	Enhancers	Brain Substantia Nigra	brain
41	chr11:83838600-83840600	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:83839000-83839600	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:83839200-83840000	Enhancers	Stomach Smooth Muscle	stomach
44	chr11:83839400-83840600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:83839600-83840400	Enhancers	Brain Hippocampus Middle	brain
46	chr11:83839600-83840600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:83839600-83840800	Enhancers	Brain Anterior Caudate	brain
48	chr11:83839600-83840800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:83840200-83840600	Enhancers	Brain Angular Gyrus	brain
50	chr11:83840200-83840600	Enhancers	Fetal Stomach	stomach

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