Variant report

Variant	esv3391832
Chromosome Location	chr3:120884815-120885685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147062926	chr3:120884817-120884818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78628617	chr3:120884823-120884824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375477806	chr3:120884824-120884825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397740512	chr3:120884828-120884829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370819514	chr3:120884829-120884830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374145218	chr3:120884830-120884831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368704517	chr3:120884831-120884832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146017535	chr3:120884891-120884892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6782749	chr3:120884932-120884933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139926625	chr3:120884952-120884953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554497187	chr3:120885035-120885036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532227852	chr3:120885052-120885053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545844266	chr3:120885141-120885142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568138380	chr3:120885142-120885143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531526372	chr3:120885166-120885167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537014189	chr3:120885186-120885187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556847866	chr3:120885187-120885188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527527903	chr3:120885216-120885217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547266848	chr3:120885235-120885236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73191420	chr3:120885257-120885258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556152666	chr3:120885261-120885262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186824231	chr3:120885284-120885285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552455409	chr3:120885308-120885309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190524367	chr3:120885357-120885358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556069086	chr3:120885368-120885369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572637424	chr3:120885384-120885385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369612811	chr3:120885444-120885445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143343565	chr3:120885448-120885449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536886579	chr3:120885458-120885459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78526592	chr3:120885473-120885474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577036481	chr3:120885480-120885481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556761158	chr3:120885488-120885489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575431500	chr3:120885501-120885502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61796882	chr3:120885513-120885514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12638006	chr3:120885536-120885537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75578223	chr3:120885634-120885635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183050191	chr3:120885660-120885661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120867000-120889000	Weak transcription	Ovary	ovary
2	chr3:120884400-120885200	Enhancers	K562	blood
3	chr3:120885200-120886000	Weak transcription	K562	blood

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