Variant report

Variant	rs7969440
Chromosome Location	chr12:124330189-124330190
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	chr12:124329999..124332885-chr12:124332920..124335378,2	K562	blood:

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

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

rs_ID	r²[population]
rs10773045	0.85[CHB][hapmap]
rs11833130	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834289	0.94[ASN][1000 genomes]
rs12579670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12580536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12580578	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs12580590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12581508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12581919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1922255	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1922256	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57190253	0.92[ASN][1000 genomes]
rs58643005	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59689760	0.97[ASN][1000 genomes]
rs60383738	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60712952	0.92[ASN][1000 genomes]
rs61732737	0.94[ASN][1000 genomes]
rs7315108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7315579	0.94[ASN][1000 genomes]
rs73422750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7979227	1.00[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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124326000-124341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124329000-124331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:124329400-124332800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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