Variant report

Variant	rs723960
Chromosome Location	chr1:223321128-223321129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr1:223320642-223321135	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223305679..223307985-chr1:223321092..223323680,2	K562	blood:

Variant related genes	Relation type
TLR5	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1341986	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1341987	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17661703	0.95[ASN][1000 genomes]
rs1773750	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1773755	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1773756	0.95[ASN][1000 genomes]
rs1773757	0.95[ASN][1000 genomes]
rs1773758	0.96[ASN][1000 genomes]
rs2096141	0.90[ASN][1000 genomes]
rs2096142	0.90[ASN][1000 genomes]
rs2247421	0.96[ASN][1000 genomes]
rs2353475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2353476	0.90[ASN][1000 genomes]
rs2353477	0.89[ASN][1000 genomes]
rs2487835	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2883182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34849527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35442320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511158	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5744105	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5744113	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5744129	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61837568	0.93[ASN][1000 genomes]
rs61837569	0.93[ASN][1000 genomes]
rs61837573	0.93[ASN][1000 genomes]
rs61837574	0.93[ASN][1000 genomes]
rs61837575	0.93[ASN][1000 genomes]
rs61837577	0.92[ASN][1000 genomes]
rs72743865	0.93[ASN][1000 genomes]
rs851166	0.94[ASN][1000 genomes]
rs851171	0.93[ASN][1000 genomes]
rs9442047	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9442048	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs975089	0.93[ASN][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:223317600-223326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223317800-223321400	Weak transcription	Gastric	stomach
3	chr1:223318000-223321400	Weak transcription	Thymus	Thymus
4	chr1:223318400-223322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:223318600-223321400	Weak transcription	Fetal Muscle Leg	muscle

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