Variant report

Variant	rs72743840
Chromosome Location	chr1:223321534-223321535
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	chr1:223305679..223307985-chr1:223321092..223323680,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11488549	1.00[ASN][1000 genomes]
rs1341985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163741	1.00[ASN][1000 genomes]
rs2352898	1.00[ASN][1000 genomes]
rs34088950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34970812	1.00[ASN][1000 genomes]
rs35705006	1.00[ASN][1000 genomes]
rs35802580	1.00[ASN][1000 genomes]
rs35953839	1.00[ASN][1000 genomes]
rs4393150	1.00[ASN][1000 genomes]
rs5744104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744144	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5744150	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5744156	0.90[EUR][1000 genomes]
rs61838985	1.00[ASN][1000 genomes]
rs67833495	1.00[ASN][1000 genomes]
rs72743847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748469	0.86[EUR][1000 genomes]
rs72748471	0.86[EUR][1000 genomes]
rs72748472	0.86[EUR][1000 genomes]
rs72748475	0.86[EUR][1000 genomes]
rs72748482	0.90[EUR][1000 genomes]
rs73113934	1.00[ASN][1000 genomes]
rs73113935	1.00[ASN][1000 genomes]
rs73113941	1.00[ASN][1000 genomes]
rs73113948	1.00[ASN][1000 genomes]
rs988243	1.00[ASN][1000 genomes]
rs988244	1.00[ASN][1000 genomes]
rs988779	1.00[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	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	chr1:223318400-223322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:223321400-223321600	ZNF genes & repeats	Thymus	Thymus
4	chr1:223321400-223321800	ZNF genes & repeats	Gastric	stomach
5	chr1:223321400-223324200	Enhancers	Fetal Muscle Leg	muscle

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