Variant report

Variant	esv2760422
Chromosome Location	chr11:83828680-83845579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 647 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369593935	chr11:83828707-83828708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537230238	chr11:83828738-83828739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556726347	chr11:83828809-83828810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182576620	chr11:83828823-83828824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74830866	chr11:83828827-83828828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550821612	chr11:83828855-83828856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554096866	chr11:83828860-83828861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527261967	chr11:83828890-83828891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372646856	chr11:83828914-83828915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144329398	chr11:83828928-83828929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543353090	chr11:83828932-83828933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561238084	chr11:83828939-83828940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576264220	chr11:83828944-83828945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543589325	chr11:83828956-83828957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186554744	chr11:83828961-83828962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561038682	chr11:83828967-83828968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4944465	chr11:83829001-83829002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559254241	chr11:83829015-83829016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529652482	chr11:83829019-83829020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573702022	chr11:83829046-83829047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375685983	chr11:83829064-83829065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569947795	chr11:83829065-83829066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111416856	chr11:83829088-83829089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183662098	chr11:83829093-83829094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113506272	chr11:83829098-83829099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539077582	chr11:83829132-83829133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553972483	chr11:83829133-83829134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372794154	chr11:83829136-83829137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572445079	chr11:83829144-83829145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536235826	chr11:83829148-83829149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543937536	chr11:83829149-83829150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112213289	chr11:83829152-83829153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576300429	chr11:83829168-83829169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543623806	chr11:83829218-83829219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189028199	chr11:83829221-83829222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532815558	chr11:83829226-83829227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576867329	chr11:83829231-83829232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541164509	chr11:83829251-83829252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74437989	chr11:83829308-83829309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1894169	chr11:83829316-83829317	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548183574	chr11:83829324-83829325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193151734	chr11:83829344-83829345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199737539	chr11:83829346-83829347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530786117	chr11:83829360-83829361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185204347	chr11:83829367-83829368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189211757	chr11:83829375-83829376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534509991	chr11:83829381-83829382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375144683	chr11:83829398-83829399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547904836	chr11:83829400-83829401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144311466	chr11:83829421-83829422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Ependymoma	20639864	CNVD

Chromatin state (count:60 , 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	chr11:83828600-83834400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:83829200-83831600	Enhancers	Brain Angular Gyrus	brain
4	chr11:83829600-83831400	Enhancers	Brain Hippocampus Middle	brain
5	chr11:83831000-83831200	Enhancers	Brain Anterior Caudate	brain
6	chr11:83831000-83831200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:83831200-83831800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:83831200-83839600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:83831400-83834000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:83831600-83833000	Weak transcription	Brain Angular Gyrus	brain
11	chr11:83831800-83832000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:83832000-83833600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:83833000-83835600	Enhancers	Brain Angular Gyrus	brain
14	chr11:83833600-83834600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr11:83834000-83834800	Enhancers	Brain Hippocampus Middle	brain
16	chr11:83834000-83835200	Enhancers	Brain Substantia Nigra	brain
17	chr11:83834200-83835400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:83834400-83834800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:83834400-83835800	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:83834600-83835000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:83834600-83839600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:83834800-83835200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:83834800-83838400	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:83835200-83835400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:83835200-83838600	Weak transcription	Brain Substantia Nigra	brain
26	chr11:83835400-83842000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:83835600-83836600	Weak transcription	Brain Angular Gyrus	brain
28	chr11:83835800-83838600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:83836600-83837400	Enhancers	Brain Angular Gyrus	brain
30	chr11:83837400-83840200	Weak transcription	Brain Angular Gyrus	brain
31	chr11:83838400-83839000	Enhancers	Brain Hippocampus Middle	brain
32	chr11:83838600-83840400	Enhancers	Brain Substantia Nigra	brain
33	chr11:83838600-83840600	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:83839000-83839600	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:83839200-83840000	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:83839400-83840600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:83839600-83840400	Enhancers	Brain Hippocampus Middle	brain
38	chr11:83839600-83840600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:83839600-83840800	Enhancers	Brain Anterior Caudate	brain
40	chr11:83839600-83840800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:83840200-83840600	Enhancers	Brain Angular Gyrus	brain
42	chr11:83840200-83840600	Enhancers	Fetal Stomach	stomach
43	chr11:83840400-83841800	Weak transcription	Brain Substantia Nigra	brain
44	chr11:83840400-83845000	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:83840600-83842000	Weak transcription	Brain Angular Gyrus	brain
46	chr11:83840800-83842000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:83840800-83847800	Weak transcription	Brain Anterior Caudate	brain
48	chr11:83841200-83841400	Enhancers	Fetal Heart	heart
49	chr11:83841400-83845200	Weak transcription	Fetal Heart	heart
50	chr11:83841800-83842600	Enhancers	Brain Substantia Nigra	brain

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