Variant report

Variant	esv2752610
Chromosome Location	chr3:109906409-109918190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 218 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543956915	chr3:109907202-109907203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6793709	chr3:109907226-109907227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532763105	chr3:109907244-109907245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6793802	chr3:109907266-109907267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566425992	chr3:109907332-109907333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528775197	chr3:109907368-109907369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6769312	chr3:109907396-109907397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140548629	chr3:109907414-109907415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536612808	chr3:109907449-109907450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552007012	chr3:109907454-109907455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567141945	chr3:109907468-109907469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6769411	chr3:109907527-109907528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112457514	chr3:109907548-109907549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372038542	chr3:109907550-109907551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78812085	chr3:109907562-109907563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549443093	chr3:109907574-109907575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141597747	chr3:109907586-109907587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573094274	chr3:109907593-109907594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57224506	chr3:109907600-109907601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546299016	chr3:109908432-109908433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559567254	chr3:109908443-109908444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376058762	chr3:109908453-109908454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573399478	chr3:109908479-109908480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181610256	chr3:109908499-109908500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572213476	chr3:109908500-109908501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62283741	chr3:109908528-109908529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542015903	chr3:109908572-109908573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36025553	chr3:109908579-109908580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562405749	chr3:109908610-109908611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140900962	chr3:109908647-109908648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536532566	chr3:109908656-109908657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554596466	chr3:109908672-109908673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576919951	chr3:109908745-109908746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563722107	chr3:109908746-109908747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532891569	chr3:109908754-109908755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144136464	chr3:109908782-109908783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566405361	chr3:109908822-109908823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535643281	chr3:109908827-109908828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1350857	chr3:109908846-109908847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs55801320	chr3:109908872-109908873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538125010	chr3:109908876-109908877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557422240	chr3:109908894-109908895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577334745	chr3:109908895-109908896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539810218	chr3:109908911-109908912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374865305	chr3:109908915-109908916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577034479	chr3:109908929-109908930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367660681	chr3:109909006-109909007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113527961	chr3:109909019-109909020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1350856	chr3:109909049-109909050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115627358	chr3:109909054-109909055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109907200-109907400	Weak transcription	Right Ventricle	heart
2	chr3:109907400-109907600	Enhancers	Right Ventricle	heart
3	chr3:109908400-109912000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:109911200-109913200	Enhancers	Fetal Heart	heart
5	chr3:109912000-109913400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:109917600-109918200	Enhancers	Brain Germinal Matrix	brain
7	chr3:109917800-109918200	Enhancers	Right Ventricle	heart
8	chr3:109917800-109918600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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