Variant report

Variant	esv3353409
Chromosome Location	chr3:86793162-86797360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74740703	chr3:86793253-86793254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7631441	chr3:86793259-86793260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551423338	chr3:86793298-86793299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368847299	chr3:86793304-86793305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569925825	chr3:86793305-86793306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536897481	chr3:86793318-86793319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555094142	chr3:86793329-86793330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184172087	chr3:86793475-86793476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369217566	chr3:86793548-86793549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534377831	chr3:86793571-86793572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552568836	chr3:86793627-86793628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9847965	chr3:86793632-86793633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116306978	chr3:86793708-86793709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373439526	chr3:86793835-86793836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79859404	chr3:86793847-86793848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115517640	chr3:86793867-86793868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540501265	chr3:86793945-86793946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76327603	chr3:86793952-86793953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188273839	chr3:86793965-86793966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528619322	chr3:86793973-86793974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73844283	chr3:86794037-86794038	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535400867	chr3:86794038-86794039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74394520	chr3:86794047-86794048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75736777	chr3:86794087-86794088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555511510	chr3:86794160-86794161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114337020	chr3:86794211-86794212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547836711	chr3:86794215-86794216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548780608	chr3:86794231-86794232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75793464	chr3:86794263-86794264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534486276	chr3:86794285-86794286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552683671	chr3:86794303-86794304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571310648	chr3:86794304-86794305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538302542	chr3:86794306-86794307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140394244	chr3:86794326-86794327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199661048	chr3:86794341-86794342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200259512	chr3:86794343-86794344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201259708	chr3:86794344-86794345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199778759	chr3:86794346-86794347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4423766	chr3:86794347-86794348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556876778	chr3:86794351-86794352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568049612	chr3:86794383-86794384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575863405	chr3:86794395-86794396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577711490	chr3:86794407-86794408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2324792	chr3:86794408-86794409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs35309716	chr3:86794433-86794434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs17364877	chr3:86794474-86794475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201889334	chr3:86794475-86794476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375763543	chr3:86794480-86794481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4462968	chr3:86794501-86794502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565429023	chr3:86794516-86794517	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86792600-86793400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:86792800-86794600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr3:86793400-86794400	Enhancers	Brain Germinal Matrix	brain

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