Variant report

Variant	rs74079228
Chromosome Location	chr13:50988374-50988375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55818564	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56329261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076622	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076624	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076626	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076629	1.00[AMR][1000 genomes]
rs74076632	1.00[AMR][1000 genomes]
rs74076633	1.00[AMR][1000 genomes]
rs74076634	1.00[AMR][1000 genomes]
rs74076635	1.00[AMR][1000 genomes]
rs74076636	1.00[AMR][1000 genomes]
rs74079212	1.00[AMR][1000 genomes]
rs74079227	1.00[AMR][1000 genomes]
rs74079233	1.00[AMR][1000 genomes]
rs74079235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079246	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079254	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50975400-50996200	Weak transcription	Right Ventricle	heart
2	chr13:50981200-50993000	Weak transcription	Fetal Heart	heart
3	chr13:50985600-50988400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:50985800-50991200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:50985800-50991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:50985800-50991600	Weak transcription	Left Ventricle	heart
7	chr13:50986000-50991600	Weak transcription	HepG2	liver
8	chr13:50986400-50991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:50986400-50991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:50986800-50994800	Weak transcription	K562	blood
11	chr13:50986800-50995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:50987200-50989600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:50987200-50993200	Weak transcription	Fetal Lung	lung
14	chr13:50987200-50995600	Weak transcription	Fetal Kidney	kidney
15	chr13:50987400-50994000	Weak transcription	HSMMtube	muscle
16	chr13:50987600-50991600	Weak transcription	Hela-S3	cervix
17	chr13:50987600-50993400	Weak transcription	Fetal Stomach	stomach
18	chr13:50987600-50995200	Weak transcription	NH-A	brain
19	chr13:50987800-50989200	Weak transcription	Osteobl	bone
20	chr13:50987800-50991800	Weak transcription	Thymus	Thymus
21	chr13:50987800-50994000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:50988000-50989200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:50988000-50996200	Weak transcription	Aorta	Aorta
24	chr13:50988000-50996200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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