Variant report

Variant	rs2830690
Chromosome Location	chr21:28474184-28474185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:144533690..144534509-chr21:28474126..28474626,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1041423	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1041424	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10482980	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17600993	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17659214	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17660338	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1788311	1.00[MKK][hapmap]
rs233588	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2830664	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2830676	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2830685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2830699	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28463781	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28549866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs404112	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7279282	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73187872	0.88[AMR][1000 genomes]
rs73187879	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73187887	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73187889	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73187890	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73187892	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73187893	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73187894	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73187895	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73187898	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73189810	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73189877	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9284446	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9975373	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9976558	0.94[AMR][1000 genomes]
rs9977974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9984557	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2830690	FRMD4A	trans	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
2	chr21:28472000-28477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:28473200-28474600	Enhancers	NHDF-Ad	bronchial
4	chr21:28473400-28474600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:28473400-28476000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:28473600-28474400	Weak transcription	Adipose Nuclei	Adipose
7	chr21:28474000-28474200	Enhancers	Hela-S3	cervix

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