Variant report

Variant	esv3371077
Chromosome Location	chr3:86272512-86274610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186914951	chr3:86272813-86272814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192061577	chr3:86272830-86272831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578051395	chr3:86272837-86272838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545380301	chr3:86272851-86272852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563674534	chr3:86272872-86272873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530972823	chr3:86272897-86272898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60376206	chr3:86272914-86272915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561866253	chr3:86272934-86272935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367996132	chr3:86272943-86272944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547294524	chr3:86272969-86272970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9826944	chr3:86272975-86272976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371479331	chr3:86272987-86272988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532896482	chr3:86273032-86273033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550918510	chr3:86273118-86273119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74578787	chr3:86273142-86273143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201602961	chr3:86273249-86273250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55799017	chr3:86273250-86273251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141385555	chr3:86273259-86273260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397806467	chr3:86273260-86273261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75477834	chr3:86273261-86273262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200792369	chr3:86273262-86273263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76067652	chr3:86273263-86273264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536692042	chr3:86273377-86273378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555625107	chr3:86273386-86273387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567893175	chr3:86273457-86273458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558179485	chr3:86273470-86273471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563335157	chr3:86273496-86273497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186117055	chr3:86273513-86273514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71128129	chr3:86273519-86273520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397813087	chr3:86273526-86273527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189889444	chr3:86273573-86273574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578009614	chr3:86273577-86273578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545515275	chr3:86273650-86273651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557530578	chr3:86273656-86273657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575693995	chr3:86273663-86273664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9832023	chr3:86273670-86273671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566794560	chr3:86273708-86273709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79712840	chr3:86273714-86273715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1949197	chr3:86273850-86273851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541180835	chr3:86273870-86273871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559287653	chr3:86273953-86273954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533007437	chr3:86273965-86273966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371897570	chr3:86274039-86274040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552863147	chr3:86274048-86274049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147162634	chr3:86274050-86274051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182106169	chr3:86274058-86274059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563077577	chr3:86274105-86274106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530403718	chr3:86274108-86274109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548725924	chr3:86274119-86274120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148056250	chr3:86274147-86274148	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Cancer	20164920	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86272800-86273000	Enhancers	A549	lung
2	chr3:86273000-86273600	Weak transcription	A549	lung
3	chr3:86273600-86274400	Enhancers	A549	lung
4	chr3:86274400-86274800	Flanking Active TSS	A549	lung

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