Variant report

Variant	rs56342697
Chromosome Location	chr2:180653257-180653258
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	chr2:180652099..180653752-chr2:180660144..180662065,2	K562	blood:
2	chr2:180645503..180649347-chr2:180649470..180653497,3	K562	blood:

Variant related genes	Relation type
ENSG00000144331	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10930884	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930885	0.92[AMR][1000 genomes]
rs17773184	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17773255	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17773308	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17773504	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17773667	0.92[AMR][1000 genomes]
rs17773899	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17773927	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17774379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824564	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17824691	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17824733	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17824871	0.92[AMR][1000 genomes]
rs17824913	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17824948	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17825041	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17825125	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17825317	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17825747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630544	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56837904	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59847923	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60243803	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180392	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62181524	1.00[ASN][1000 genomes]
rs62181526	1.00[ASN][1000 genomes]
rs6718670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046887	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73046894	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73046901	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048517	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557892	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7581371	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180653200-180653600	Enhancers	K562	blood

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