Variant report

Variant	esv274986
Chromosome Location	chr3:82108769-82113892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200102844	chr3:82108831-82108832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562878930	chr3:82108889-82108890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531947330	chr3:82108932-82108933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552042964	chr3:82108981-82108982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571795886	chr3:82108986-82108987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115992015	chr3:82109042-82109043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547547583	chr3:82109059-82109060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201942531	chr3:82109065-82109066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567040738	chr3:82109128-82109129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77504364	chr3:82109229-82109230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555772553	chr3:82109251-82109252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569621108	chr3:82109359-82109360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140525393	chr3:82109404-82109405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115718337	chr3:82109426-82109427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573666114	chr3:82109427-82109428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572205599	chr3:82109448-82109449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11713716	chr3:82109477-82109478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541243470	chr3:82109491-82109492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554776458	chr3:82109567-82109568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574213868	chr3:82109589-82109590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543129127	chr3:82109618-82109619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543933695	chr3:82109647-82109648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562784335	chr3:82109668-82109669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531731000	chr3:82109714-82109715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564682150	chr3:82109757-82109758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545029619	chr3:82109772-82109773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74680012	chr3:82109773-82109774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527948617	chr3:82109777-82109778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145899973	chr3:82109835-82109836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567502327	chr3:82109844-82109845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6805116	chr3:82109859-82109860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74472965	chr3:82109865-82109866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549842767	chr3:82109898-82109899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62265756	chr3:82109962-82109963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114143756	chr3:82109964-82109965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558232771	chr3:82109968-82109969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112297361	chr3:82110003-82110004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55664554	chr3:82110009-82110010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554839544	chr3:82110025-82110026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140847848	chr3:82110035-82110036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111766989	chr3:82110190-82110191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370958037	chr3:82110252-82110253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556623587	chr3:82110254-82110255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376826285	chr3:82110258-82110259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186447657	chr3:82110324-82110325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528862262	chr3:82110397-82110398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548531704	chr3:82110422-82110423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545403128	chr3:82110435-82110436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112215823	chr3:82110496-82110497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75003976	chr3:82110516-82110517	Weak transcription	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
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
Splenic marginal zone lymphoma	21957467	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82108600-82111800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:82111400-82112200	Enhancers	HUVEC	blood vessel
3	chr3:82111600-82115600	Weak transcription	HepG2	liver

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