Variant report

Variant	rs72801584
Chromosome Location	chr2:55730026-55730027
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	chr2:55727452..55730813-chr2:55743534..55747364,4	K562	blood:

Variant related genes	Relation type
ENSG00000163001	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10496048	0.93[AMR][1000 genomes]
rs17278009	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17792577	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4643582	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801530	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72801531	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72801560	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72801562	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72801566	0.90[EUR][1000 genomes]
rs72801568	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72801571	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72801572	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72801575	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72801577	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72801580	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72801581	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72801592	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72801594	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72801601	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803508	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72803511	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803513	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803515	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803520	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803525	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72803527	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72803529	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72803530	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72803534	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803536	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72803541	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803542	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803543	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803544	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803546	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803553	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803566	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72803573	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803576	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72803586	0.93[AMR][1000 genomes]
rs72803588	0.93[AMR][1000 genomes]
rs72803591	0.93[AMR][1000 genomes]
rs72803595	0.93[AMR][1000 genomes]
rs72805406	0.93[AMR][1000 genomes]
rs72805414	0.93[AMR][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv521318	chr2:55716650-55736704	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55728200-55730400	Weak transcription	K562	blood
2	chr2:55730000-55730200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:55730000-55730800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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