Variant report

Variant	rs12814085
Chromosome Location	chr12:10448911-10448912
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	chr12:10445022..10447315-chr12:10448355..10450390,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10743881	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845104	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11053722	0.93[EUR][1000 genomes]
rs12304713	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12311695	0.95[EUR][1000 genomes]
rs12315681	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12315815	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12813575	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12817905	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12828540	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12832489	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17206564	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2537793	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2617128	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2617135	0.93[EUR][1000 genomes]
rs2617137	0.93[EUR][1000 genomes]
rs2927558	0.93[EUR][1000 genomes]
rs34282122	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34790670	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34859528	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34956502	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35518026	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35868193	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4764369	0.95[EUR][1000 genomes]
rs56272210	0.87[ASN][1000 genomes]
rs58700703	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71450033	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71450034	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7958472	0.93[EUR][1000 genomes]
rs7969664	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv605	chr12:10448638-10494208	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10447000-10453600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:10447400-10455000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:10447600-10449000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:10447800-10453600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:10447800-10456600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:10448800-10449600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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