Variant report

Variant	rs17005814
Chromosome Location	chr4:120690702-120690703
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	chr4:120687235..120689580-chr4:120690660..120692229,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11098535	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11098536	0.86[EUR][1000 genomes]
rs11098537	0.86[EUR][1000 genomes]
rs11929853	0.92[AFR][1000 genomes]
rs11944683	0.92[AFR][1000 genomes]
rs17005547	0.86[EUR][1000 genomes]
rs17005622	0.92[AFR][1000 genomes]
rs17005818	0.84[AFR][1000 genomes]
rs17005819	0.84[AFR][1000 genomes]
rs28378775	0.98[ASN][1000 genomes]
rs36100748	0.82[AFR][1000 genomes]
rs4450908	0.84[AFR][1000 genomes]
rs55922435	0.86[EUR][1000 genomes]
rs56199127	0.86[EUR][1000 genomes]
rs56296554	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56324051	0.86[EUR][1000 genomes]
rs59755197	0.92[AFR][1000 genomes]
rs72678595	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72678596	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72678597	0.83[EUR][1000 genomes]
rs72678599	0.83[EUR][1000 genomes]
rs72678601	0.83[EUR][1000 genomes]
rs72678602	0.83[EUR][1000 genomes]
rs72680932	0.86[EUR][1000 genomes]
rs72680933	0.86[EUR][1000 genomes]
rs72680934	0.86[EUR][1000 genomes]
rs72680935	0.86[EUR][1000 genomes]
rs72680936	0.86[EUR][1000 genomes]
rs72680937	0.86[EUR][1000 genomes]
rs72680938	0.86[EUR][1000 genomes]
rs72680941	0.86[EUR][1000 genomes]
rs72680944	0.86[EUR][1000 genomes]
rs72680945	0.86[EUR][1000 genomes]
rs72680949	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72680953	0.86[EUR][1000 genomes]
rs72680958	0.86[EUR][1000 genomes]
rs72680959	0.86[EUR][1000 genomes]
rs72680962	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72680965	0.86[EUR][1000 genomes]
rs72680968	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680972	0.90[EUR][1000 genomes]
rs72680973	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680975	0.97[EUR][1000 genomes]
rs72680980	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680982	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680985	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680987	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680989	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680990	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72681002	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72682804	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72682807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7659472	0.83[EUR][1000 genomes]
rs7682717	0.83[EUR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv966541	chr4:120671470-120702965	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120690200-120695000	Weak transcription	Fetal Heart	heart
2	chr4:120690400-120690800	Enhancers	Osteobl	bone

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