Variant report

Variant	rs12406723
Chromosome Location	chr1:84892799-84892800
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	chr1:84768924..84771219-chr1:84892574..84895571,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493747	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874438	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163962	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049602	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118984	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246330	0.92[EUR][1000 genomes]
rs1246331	0.89[EUR][1000 genomes]
rs1588037	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131704	0.93[ASN][1000 genomes]
rs500565	0.93[EUR][1000 genomes]
rs558268	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6576704	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661172	0.98[EUR][1000 genomes]
rs667923	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs679152	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7511984	0.98[EUR][1000 genomes]
rs7512262	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514601	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7515964	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7516125	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7541465	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547088	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7548231	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9432829	0.93[ASN][1000 genomes]
rs9433225	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84881600-84893000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:84889000-84893000	Weak transcription	HMEC	breast
3	chr1:84889000-84893200	Weak transcription	NHEK	skin
4	chr1:84889200-84893400	Weak transcription	Stomach Mucosa	stomach
5	chr1:84891400-84893200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:84892200-84893600	Enhancers	K562	blood
7	chr1:84892400-84893200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:84892400-84893400	Enhancers	HUVEC	blood vessel
9	chr1:84892400-84893600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:84892400-84895400	Enhancers	Hela-S3	cervix
11	chr1:84892600-84896000	Weak transcription	Primary monocytes fromperipheralblood	blood

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