Variant report

Variant	rs72998587
Chromosome Location	chr11:74942806-74942807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74940724..74942990-chr11:74944067..74946859,2	K562	blood:
2	chr11:74942728..74948814-chr11:74950284..74954015,8	K562	blood:
3	chr11:74923912..74926084-chr11:74940917..74943101,2	K562	blood:

Variant related genes	Relation type
ENSG00000261594	Chromatin interaction
ENSG00000255136	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12721494	0.84[EUR][1000 genomes]
rs17133815	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17133831	0.82[EUR][1000 genomes]
rs17133844	0.89[EUR][1000 genomes]
rs17133848	0.89[EUR][1000 genomes]
rs17133858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801906	0.82[EUR][1000 genomes]
rs2035208	0.82[EUR][1000 genomes]
rs34827001	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298117	1.00[EUR][1000 genomes]
rs41298121	0.82[EUR][1000 genomes]
rs4362167	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56738638	0.82[EUR][1000 genomes]
rs56958854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57277559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57279023	0.82[EUR][1000 genomes]
rs57654883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59390914	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59940449	0.87[EUR][1000 genomes]
rs60893479	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61265142	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67495709	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67947456	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998568	0.92[EUR][1000 genomes]
rs72998590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998593	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998594	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488764	0.82[EUR][1000 genomes]
rs7924924	0.82[EUR][1000 genomes]
rs7927925	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7951787	0.82[EUR][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	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 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	chr11:74935800-74946600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:74940800-74947200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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