Variant report

Variant	esv3462340
Chromosome Location	chr3:110694159-110699170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs369024878	chr3:110694217-110694218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111349837	chr3:110694230-110694231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182215450	chr3:110694255-110694256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372865352	chr3:110694256-110694257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149744364	chr3:110694258-110694259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185647600	chr3:110694341-110694342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73227055	chr3:110694346-110694347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5000277	chr3:110694350-110694351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377008990	chr3:110694379-110694380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116377991	chr3:110694409-110694410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535925540	chr3:110694417-110694418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563374344	chr3:110694456-110694457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532068122	chr3:110694481-110694482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550822046	chr3:110694516-110694517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569067975	chr3:110694585-110694586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552164028	chr3:110694586-110694587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145592595	chr3:110694587-110694588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528065168	chr3:110694661-110694662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190117361	chr3:110694667-110694668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548121976	chr3:110694760-110694761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568013437	chr3:110694764-110694765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557992089	chr3:110694769-110694770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35266937	chr3:110694782-110694783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181552623	chr3:110694828-110694829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112084638	chr3:110694851-110694852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186204047	chr3:110694921-110694922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552448819	chr3:110694922-110694923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77263976	chr3:110695025-110695026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376056021	chr3:110695032-110695033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538730627	chr3:110695060-110695061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190233056	chr3:110695062-110695063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572384234	chr3:110695065-110695066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148457916	chr3:110695071-110695072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555349067	chr3:110695077-110695078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575137677	chr3:110695083-110695084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544038341	chr3:110695086-110695087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555326319	chr3:110695092-110695093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563694383	chr3:110695124-110695125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573584289	chr3:110695126-110695127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576892180	chr3:110695181-110695182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17202515	chr3:110695304-110695305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565736658	chr3:110695358-110695359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs723025	chr3:110695369-110695370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528124656	chr3:110695402-110695403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs723023	chr3:110695424-110695425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114181589	chr3:110695542-110695543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142597810	chr3:110695580-110695581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs723024	chr3:110695596-110695597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564364645	chr3:110695598-110695599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181411950	chr3:110695624-110695625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110683800-110703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:110694600-110695000	Enhancers	Pancreatic Islets	Pancreatic Islet

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