Variant report

Variant	esv3382981
Chromosome Location	chr3:85162733-85165838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552355968	chr3:85162807-85162808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570967475	chr3:85162813-85162814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538307927	chr3:85162814-85162815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5850668	chr3:85162819-85162820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550220248	chr3:85162821-85162822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397876850	chr3:85162827-85162828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199563832	chr3:85162836-85162837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148721496	chr3:85162837-85162838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568390261	chr3:85162843-85162844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573796347	chr3:85162848-85162849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397877590	chr3:85162849-85162850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555678015	chr3:85162850-85162851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554207936	chr3:85162865-85162866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150506065	chr3:85162912-85162913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34992129	chr3:85163010-85163011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557888145	chr3:85163013-85163014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139479014	chr3:85163042-85163043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183003204	chr3:85163055-85163056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562590657	chr3:85163062-85163063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6773806	chr3:85163167-85163168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541808533	chr3:85163180-85163181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188140111	chr3:85163187-85163188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192940060	chr3:85163199-85163200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527542019	chr3:85163256-85163257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144515278	chr3:85163270-85163271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116634385	chr3:85163275-85163276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531512847	chr3:85163336-85163337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35737808	chr3:85163377-85163378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550331940	chr3:85163425-85163426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114661487	chr3:85163457-85163458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201696191	chr3:85163510-85163511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs578082009	chr3:85163546-85163547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535525300	chr3:85163548-85163549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147839134	chr3:85163575-85163576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542140607	chr3:85163586-85163587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75301349	chr3:85163593-85163594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112555172	chr3:85163660-85163661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73843296	chr3:85163711-85163712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558009616	chr3:85163722-85163723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569952520	chr3:85163765-85163766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141439741	chr3:85163768-85163769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183810542	chr3:85163782-85163783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145204210	chr3:85163866-85163867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533402790	chr3:85163884-85163885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368277898	chr3:85163886-85163887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145007577	chr3:85163983-85163984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553694546	chr3:85163987-85163988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541956177	chr3:85163989-85163990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375627698	chr3:85163990-85163991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572393384	chr3:85164015-85164016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85153000-85168200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:85163200-85163600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:85164800-85165200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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