Variant report

Variant	esv3376568
Chromosome Location	chr3:86024662-86028360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9880094	chr3:86025404-86025405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73843560	chr3:86025407-86025408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575494433	chr3:86025420-86025421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542984235	chr3:86025430-86025431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112464574	chr3:86025431-86025432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78631496	chr3:86025434-86025435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143116026	chr3:86025437-86025438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539803907	chr3:86025439-86025440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565005388	chr3:86025444-86025445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532047206	chr3:86025459-86025460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550235779	chr3:86025460-86025461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190097515	chr3:86025497-86025498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146580542	chr3:86025499-86025500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530225291	chr3:86025529-86025530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547998563	chr3:86025548-86025549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79920960	chr3:86025628-86025629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141875430	chr3:86025640-86025641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182204667	chr3:86025690-86025691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527270916	chr3:86025749-86025750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79452427	chr3:86025761-86025762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558646262	chr3:86025763-86025764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570979786	chr3:86025825-86025826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141319292	chr3:86025844-86025845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565830870	chr3:86025884-86025885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75259170	chr3:86025895-86025896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185487390	chr3:86025899-86025900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188312799	chr3:86025963-86025964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573018411	chr3:86025978-86025979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373388663	chr3:86026039-86026040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534225714	chr3:86026045-86026046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564565331	chr3:86026188-86026189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576412366	chr3:86026230-86026231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543946259	chr3:86026241-86026242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547457434	chr3:86026250-86026251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562243406	chr3:86026278-86026279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145053443	chr3:86026285-86026286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180844064	chr3:86026288-86026289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138828260	chr3:86026298-86026299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527951713	chr3:86026315-86026316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2324973	chr3:86026320-86026321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75054789	chr3:86026400-86026401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538238516	chr3:86026404-86026405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550299610	chr3:86026561-86026562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140439683	chr3:86026605-86026606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185883537	chr3:86026636-86026637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554437136	chr3:86026645-86026646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572969736	chr3:86026684-86026685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556024730	chr3:86026717-86026718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567776093	chr3:86026808-86026809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79041726	chr3:86026837-86026838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86025400-86025600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:86025600-86027600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:86026800-86027200	Enhancers	Brain Anterior Caudate	brain
4	chr3:86027000-86027800	Enhancers	Brain Cingulate Gyrus	brain
5	chr3:86027000-86027800	Enhancers	Brain Hippocampus Middle	brain
6	chr3:86027200-86028000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:86027600-86028000	Enhancers	Brain Substantia Nigra	brain
8	chr3:86027600-86028600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:86027800-86030600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:86028000-86043000	Weak transcription	Brain Inferior Temporal Lobe	brain

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