Variant report

Variant	esv3366132
Chromosome Location	chr3:102093862-102095860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184503306	chr3:102093886-102093887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533738387	chr3:102093893-102093894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555402408	chr3:102093923-102093924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189734232	chr3:102093962-102093963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544619127	chr3:102093964-102093965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386663992	chr3:102093981-102093982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556713351	chr3:102094024-102094025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199839005	chr3:102094051-102094052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181223879	chr3:102094070-102094071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376879871	chr3:102094081-102094082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145785977	chr3:102094086-102094087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386663993	chr3:102094088-102094089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186048329	chr3:102094097-102094098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189330987	chr3:102094098-102094099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113017496	chr3:102094100-102094101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566121017	chr3:102094155-102094156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536799977	chr3:102094163-102094164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527783304	chr3:102094390-102094391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142408854	chr3:102094461-102094462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79050304	chr3:102094474-102094475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560990908	chr3:102094484-102094485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181908715	chr3:102094503-102094504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186064746	chr3:102094566-102094567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190867793	chr3:102094593-102094594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532947127	chr3:102094607-102094608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59021414	chr3:102094613-102094614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551572295	chr3:102094622-102094623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13073969	chr3:102094629-102094630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566524118	chr3:102094632-102094633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13059288	chr3:102094634-102094635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60367277	chr3:102094637-102094638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56819446	chr3:102094641-102094642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13059289	chr3:102094643-102094644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376916124	chr3:102094645-102094646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60953499	chr3:102094652-102094653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61035622	chr3:102094654-102094655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372095526	chr3:102094661-102094662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58988177	chr3:102094676-102094677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376823421	chr3:102094686-102094687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375347070	chr3:102094691-102094692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56801712	chr3:102094699-102094700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368321028	chr3:102094700-102094701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370256858	chr3:102094702-102094703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59331305	chr3:102094703-102094704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376913418	chr3:102094705-102094706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370598033	chr3:102094709-102094710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374038014	chr3:102094715-102094716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59655031	chr3:102094718-102094719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371162269	chr3:102094721-102094722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374270846	chr3:102094725-102094726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	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	chr3:102075600-102096600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:102093200-102096600	Weak transcription	HMEC	breast
3	chr3:102093800-102096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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