Variant report

Variant	rs73227493
Chromosome Location	chr5:111477659-111477660
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	chr5:111462802..111465280-chr5:111476047..111478895,2	K562	blood:
2	chr5:111475133..111477768-chr5:111494937..111496726,2	K562	blood:

Variant related genes	Relation type
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17134152	0.82[EUR][1000 genomes]
rs17134153	0.90[EUR][1000 genomes]
rs17134154	0.90[EUR][1000 genomes]
rs17134156	0.90[EUR][1000 genomes]
rs17266115	0.81[EUR][1000 genomes]
rs27982	0.82[ASN][1000 genomes]
rs2900060	1.00[ASN][1000 genomes]
rs55641410	0.90[EUR][1000 genomes]
rs56071312	0.82[EUR][1000 genomes]
rs56092269	0.82[EUR][1000 genomes]
rs57349429	0.82[EUR][1000 genomes]
rs57541807	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60370278	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898536	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227487	0.82[ASN][1000 genomes]
rs73227490	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227492	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227496	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227498	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787775	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787779	0.82[EUR][1000 genomes]
rs73787782	0.86[EUR][1000 genomes]
rs73787784	0.81[EUR][1000 genomes]
rs7730334	0.89[EUR][1000 genomes]
rs7731129	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv599370	chr5:111419303-111485372	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr5:111476000-111477800	Weak transcription	Spleen	Spleen
2	chr5:111477000-111479800	Enhancers	Fetal Lung	lung
3	chr5:111477000-111480200	Enhancers	Fetal Heart	heart
4	chr5:111477200-111478200	Enhancers	Fetal Muscle Leg	muscle
5	chr5:111477400-111478000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:111477600-111479000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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