Variant report

Variant	esv3426512
Chromosome Location	chr3:145148662-145152960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116740631	chr3:145152204-145152205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558189085	chr3:145152220-145152221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181307066	chr3:145152221-145152222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538818249	chr3:145152231-145152232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557558012	chr3:145152232-145152233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138339742	chr3:145152257-145152258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370092344	chr3:145152290-145152291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560853559	chr3:145152310-145152311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142818797	chr3:145152330-145152331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573230342	chr3:145152339-145152340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372709173	chr3:145152340-145152341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375932839	chr3:145152341-145152342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73157233	chr3:145152357-145152358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78582449	chr3:145152389-145152390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373000276	chr3:145152393-145152394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376562918	chr3:145152471-145152472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1516545	chr3:145152484-145152485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs373143694	chr3:145152577-145152578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566661854	chr3:145152593-145152594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371890918	chr3:145152656-145152657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138885896	chr3:145152658-145152659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149443525	chr3:145152684-145152685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570188230	chr3:145152688-145152689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554293952	chr3:145152715-145152716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376215163	chr3:145152762-145152763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186535489	chr3:145152784-145152785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371142782	chr3:145152808-145152809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555205553	chr3:145152817-145152818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374503735	chr3:145152826-145152827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540604812	chr3:145152873-145152874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377452021	chr3:145152894-145152895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144828131	chr3:145152919-145152920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs345037	chr3:145152953-145152954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145152200-145153600	Enhancers	Fetal Lung	lung

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