Variant report

Variant	esv3353660
Chromosome Location	chr3:84971162-84975660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528177543	chr3:84974400-84974401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546421861	chr3:84974431-84974432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76076910	chr3:84974438-84974439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570885515	chr3:84974451-84974452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147015189	chr3:84974483-84974484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550560653	chr3:84974516-84974517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553064653	chr3:84974581-84974582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138079153	chr3:84974588-84974589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536572125	chr3:84974611-84974612	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548383350	chr3:84974628-84974629	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566713590	chr3:84974630-84974631	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117250391	chr3:84974678-84974679	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558733590	chr3:84974746-84974747	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577276570	chr3:84974780-84974781	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28693686	chr3:84974785-84974786	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532842554	chr3:84974825-84974826	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60917138	chr3:84974877-84974878	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs58662329	chr3:84974886-84974887	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575096104	chr3:84974929-84974930	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560307628	chr3:84974936-84974937	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78885292	chr3:84974953-84974954	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546383509	chr3:84974954-84974955	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555248633	chr3:84974978-84974979	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs988121	chr3:84974993-84974994	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368709418	chr3:84975008-84975009	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143664254	chr3:84975096-84975097	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374144383	chr3:84975133-84975134	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58564126	chr3:84975152-84975153	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548548907	chr3:84975166-84975167	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112553809	chr3:84975211-84975212	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566761775	chr3:84975218-84975219	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147477383	chr3:84975228-84975229	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138243396	chr3:84975329-84975330	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570827287	chr3:84975364-84975365	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538362548	chr3:84975371-84975372	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556119807	chr3:84975398-84975399	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574535664	chr3:84975407-84975408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535746552	chr3:84975410-84975411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190420172	chr3:84975474-84975475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572710679	chr3:84975475-84975476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76104077	chr3:84975488-84975489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546314927	chr3:84975490-84975491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373991897	chr3:84975545-84975546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564725187	chr3:84975577-84975578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556436372	chr3:84975586-84975587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576842466	chr3:84975587-84975588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576311543	chr3:84975596-84975597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181531427	chr3:84975598-84975599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75708851	chr3:84975619-84975620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	21858162	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
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84974400-84975200	Enhancers	Brain Cingulate Gyrus	brain
2	chr3:84974600-84975400	Active TSS	Brain Angular Gyrus	brain
3	chr3:84974800-84975200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr3:84974800-84975400	Active TSS	Brain Hippocampus Middle	brain
5	chr3:84975200-84975400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:84975400-84976200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:84975400-84976400	Enhancers	Brain Hippocampus Middle	brain
8	chr3:84975600-84976000	Enhancers	Brain Angular Gyrus	brain

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