Variant report

Variant	rs61942785
Chromosome Location	chr12:48785843-48785844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12578360	0.87[AFR][1000 genomes]
rs12580859	1.00[AFR][1000 genomes]
rs12581223	0.84[AMR][1000 genomes]
rs12582586	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12582594	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28889727	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4397895	1.00[AFR][1000 genomes]
rs4426170	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4485148	0.87[AFR][1000 genomes]
rs4547144	1.00[AFR][1000 genomes]
rs55667337	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55971664	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56034252	1.00[AFR][1000 genomes]
rs56191575	1.00[AFR][1000 genomes]
rs59325389	0.87[AFR][1000 genomes]
rs59337124	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61940763	1.00[AFR][1000 genomes]
rs61940764	1.00[AFR][1000 genomes]
rs61940766	1.00[AFR][1000 genomes]
rs61940767	1.00[AFR][1000 genomes]
rs61940768	1.00[AFR][1000 genomes]
rs61940776	1.00[AFR][1000 genomes]
rs61942782	0.87[AFR][1000 genomes]
rs61942783	0.87[AFR][1000 genomes]
rs61942784	0.87[AFR][1000 genomes]
rs61942786	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61942787	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61942812	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61942813	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61942816	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61942817	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61942828	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61942830	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61942831	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48784200-48789800	Weak transcription	Aorta	Aorta
2	chr12:48784600-48788200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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