Variant report

Variant	esv3394540
Chromosome Location	chr3:109326962-109330360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550313406	chr3:109326984-109326985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563948585	chr3:109326989-109326990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551426687	chr3:109327000-109327001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533193654	chr3:109327001-109327002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146154071	chr3:109327030-109327031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138883539	chr3:109327072-109327073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182224081	chr3:109327085-109327086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548615714	chr3:109327099-109327100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141265724	chr3:109327180-109327181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7652437	chr3:109327222-109327223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150763762	chr3:109327244-109327245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547956710	chr3:109327245-109327246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368473763	chr3:109327278-109327279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540074098	chr3:109327289-109327290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553369609	chr3:109327320-109327321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565604392	chr3:109327333-109327334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7652626	chr3:109327380-109327381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554946320	chr3:109327475-109327476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186562339	chr3:109327525-109327526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574952721	chr3:109327530-109327531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138023768	chr3:109327532-109327533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563884716	chr3:109327576-109327577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367631995	chr3:109327579-109327580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200484104	chr3:109327593-109327594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532958781	chr3:109327602-109327603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557792086	chr3:109327690-109327691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567405276	chr3:109327720-109327721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191749526	chr3:109327731-109327732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560151033	chr3:109327735-109327736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376218089	chr3:109327739-109327740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536617720	chr3:109327740-109327741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77382645	chr3:109327743-109327744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375761535	chr3:109327766-109327767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571412665	chr3:109327773-109327774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568476318	chr3:109327833-109327834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530969441	chr3:109327855-109327856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551093136	chr3:109327870-109327871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570954437	chr3:109327874-109327875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116748666	chr3:109327875-109327876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553547758	chr3:109327880-109327881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567025148	chr3:109327963-109327964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533932137	chr3:109327989-109327990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556053850	chr3:109328034-109328035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73850998	chr3:109328045-109328046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545877083	chr3:109328097-109328098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371786752	chr3:109328160-109328161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149598162	chr3:109328206-109328207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146089567	chr3:109328259-109328260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs36112551	chr3:109328312-109328313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577682135	chr3:109328320-109328321	Weak transcription Enhancers	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
T-cell acute lymphoblastic leukemia	19406988	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109326400-109328400	Enhancers	Dnd41	blood
2	chr3:109326800-109327400	Enhancers	Primary hematopoietic stem cells	blood
3	chr3:109327400-109331600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:109328400-109330400	Weak transcription	Dnd41	blood

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