Variant report

Variant	rs66507623
Chromosome Location	chr22:27698100-27698101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13058071	0.83[AFR][1000 genomes]
rs13058091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34229941	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34598999	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34769103	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34856866	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34857171	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35516753	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35575363	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36013403	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36032721	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57298963	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs573008	0.89[EUR][1000 genomes]
rs67915283	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71325236	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71325237	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73883119	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73883121	0.87[AMR][1000 genomes];0.92[EUR][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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27696800-27698200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:27697000-27702600	Weak transcription	Fetal Brain Female	brain
3	chr22:27697000-27705800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:27697800-27698400	Weak transcription	Brain Germinal Matrix	brain
5	chr22:27698000-27702800	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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