Variant report

Variant	rs12194594
Chromosome Location	chr6:73301244-73301245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73299934..73301513-chr6:73301688..73303791,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10455265	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10805962	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10805963	1.00[ASN][1000 genomes]
rs10943028	1.00[ASN][1000 genomes]
rs10943029	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10943030	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11754088	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11756583	1.00[ASN][1000 genomes]
rs12154175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190317	1.00[ASN][1000 genomes]
rs12194365	1.00[ASN][1000 genomes]
rs12194589	1.00[ASN][1000 genomes]
rs12207905	1.00[ASN][1000 genomes]
rs12207993	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12209479	1.00[ASN][1000 genomes]
rs12210205	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12215286	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12216052	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216223	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13195485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1334343	1.00[ASN][1000 genomes]
rs17691724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28652881	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34772650	0.96[AMR][1000 genomes]
rs35490354	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912302	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6922202	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72946202	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7764686	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7776072	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293887	0.90[AMR][1000 genomes];1.00[ASN][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	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv981374	chr6:73293962-73308205	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73301000-73301400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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