Variant report

Variant	esv2482801
Chromosome Location	chr3:144810320-144811727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561014481	chr3:144810358-144810359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76978863	chr3:144810391-144810392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142347314	chr3:144810403-144810404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143214983	chr3:144810412-144810413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148337799	chr3:144810413-144810414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73874046	chr3:144810417-144810418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182949705	chr3:144810420-144810421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535608998	chr3:144810423-144810424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116800169	chr3:144810425-144810426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571931110	chr3:144810491-144810492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539313608	chr3:144810518-144810519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554735986	chr3:144810620-144810621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573064315	chr3:144810647-144810648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61328568	chr3:144810656-144810657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141464835	chr3:144810661-144810662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116464546	chr3:144810730-144810731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561570716	chr3:144810749-144810750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573667892	chr3:144810751-144810752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554680981	chr3:144810778-144810779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9843234	chr3:144810780-144810781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116022039	chr3:144810833-144810834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191696868	chr3:144810836-144810837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9863285	chr3:144810838-144810839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73874047	chr3:144810899-144810900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531951504	chr3:144810957-144810958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61086519	chr3:144811000-144811001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150887738	chr3:144811007-144811008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563424788	chr3:144811008-144811009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529360085	chr3:144811039-144811040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547501362	chr3:144811042-144811043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73874048	chr3:144811141-144811142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369898601	chr3:144811144-144811145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539253296	chr3:144811197-144811198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188034228	chr3:144811217-144811218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569925886	chr3:144811231-144811232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373240846	chr3:144811236-144811237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7632301	chr3:144811397-144811398	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115680387	chr3:144811400-144811401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369338982	chr3:144811402-144811403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541078242	chr3:144811437-144811438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138283290	chr3:144811470-144811471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142918360	chr3:144811608-144811609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7645095	chr3:144811621-144811622	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563071777	chr3:144811714-144811715	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144806000-144811000	Weak transcription	Fetal Heart	heart
2	chr3:144807000-144812200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:144811000-144811600	Enhancers	Fetal Heart	heart
4	chr3:144811600-144812400	Flanking Active TSS	Fetal Heart	heart
5	chr3:144811600-144813200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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