Variant report

Variant	nsv430414
Chromosome Location	chr11:83830452-83840252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 364 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11825701	chr11:83830473-83830474	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182366425	chr11:83830493-83830494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569797436	chr11:83830548-83830549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76804004	chr11:83830571-83830572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151018133	chr11:83830678-83830679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558174427	chr11:83830709-83830710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571137490	chr11:83830710-83830711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534961483	chr11:83830722-83830723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76030800	chr11:83830762-83830763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568713866	chr11:83830765-83830766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116695540	chr11:83830780-83830781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376246234	chr11:83830788-83830789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140876029	chr11:83830831-83830832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373415660	chr11:83830913-83830914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149736827	chr11:83830951-83830952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557122066	chr11:83831015-83831016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55677917	chr11:83831038-83831039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539434795	chr11:83831053-83831054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10898206	chr11:83831057-83831058	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10898207	chr11:83831102-83831103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540207747	chr11:83831177-83831178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7108582	chr11:83831259-83831260	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573532824	chr11:83831268-83831269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185493048	chr11:83831277-83831278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74383087	chr11:83831291-83831292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72951873	chr11:83831296-83831297	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552547193	chr11:83831311-83831312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191356507	chr11:83831356-83831357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528480521	chr11:83831385-83831386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547014789	chr11:83831390-83831391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568748319	chr11:83831394-83831395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114366636	chr11:83831396-83831397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182850849	chr11:83831419-83831420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57510123	chr11:83831424-83831425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370561357	chr11:83831448-83831449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61897633	chr11:83831454-83831455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575197583	chr11:83831467-83831468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72951874	chr11:83831487-83831488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533766430	chr11:83831505-83831506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555267890	chr11:83831506-83831507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573569142	chr11:83831542-83831543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187699227	chr11:83831548-83831549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117296778	chr11:83831557-83831558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577767165	chr11:83831560-83831561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74399131	chr11:83831625-83831626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564592930	chr11:83831631-83831632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528507227	chr11:83831639-83831640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561222934	chr11:83831719-83831720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562383779	chr11:83831816-83831817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529572668	chr11:83831874-83831875	Weak transcription Enhancers	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:41 , 50 per page) page: 1

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

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